Search Criteria: Research Area is "Neurobiology Research: Neurodegeneration"
New Strains Awaiting Transfer from the Donor
Additional Register Interest Strains
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 002052 | B6.129P2-Apoetm1Unc/J | Level 2 |
| Mice homozygous for the Apoetm1Unc mutation show a marked increase in total plasma cholesterol levels that are unaffected by age or sex. Fatty streaks in the proximal aorta are found at 3 months of age. The lesions increase with age and progress to lesions with less lipid but more elongated cells, typical of a more advanced stage of pre-atherosclerotic lesion. Moderately increased triglyceride levels have been reported in mice with this mutation on a mixed C57BL/6 x 129 genetic background. Aged apoE-deficient mice (>17 months) have been shown to develop xanthomatous lesions in the brain consisting mostly of crystalline cholesterol clefts, lipid globules, and foam cells. Smaller xanthomas were seen in the choroid plexus and ventral fornix. Additional studies indicate that apoE-deficient mice have altered responses to stress, impaired spatial learning and memory, altered long term potentiation, and synaptic damage. | ||
| 006494 | B6CBA-Tg(HDexon1)62Gpb/3J | Level 3 |
| This line is transgenic for the 5' end of the human HD gene carrying approximately 120 +/- 5 (CAG)repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 9 and 11 weeks. Commonly known as the "R6/2" strain. Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cel ..... | ||
| 002726 | B6SJL-Tg(SOD1*G93A)1Gur/J | Level 3 |
| Mice hemizygous for this SOD1-G93A (also called G93A-SOD1) transgene are viable and fertile, with transgenic expression of a G93A mutant form of human SOD1. This founder line (often referred to as G1H) is reported to have high transgene copy number. Hemizygotes exhibit a phenotype similar to amyotrophic lateral sclerosis (ALS) in humans; becoming paralyzed in one or more limbs with paralysis due to loss of motor neurons from the spinal cord. Transgenic mice have an abbreviated life span: 50% survive at 128.9+/-9.1 days (in contrast to C57BL/6J background where 50% survival is observed at 157.1+/-9.3 days). These SOD1-G93A (also called G93A-SOD1) transgenic mice may be useful in studying neuromuscular disorders, including Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).
This strain ships with a JAXTagTM affixed. Learn more about JAXTagTM. | ||
| 003008 | B6;129S-Tnftm1Gkl/J | Level 4 |
| Mice homozygous for the Tnftm1Gkl targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does ..... For more information please see the full phenotype on the strain data sheet | ||
| 002810 | B6CBA-Tg(HDexon1)62Gpb/1J | Level 4 |
| This line is transgenic for the 5' end of the human HD gene carrying approximately 160 +/- 5 repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between nine and 11 weeks. Commonly known as the "R6/2" strain.
Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cells ..... | ||
| 018589 | 129-MaoaK284stop/J | Repository- Live |
| This strain carries a spontaneous mutation designated MaoaK284stop in the X-linked monoamine oxidase A (Maoa) gene which abolishes gene function. MAO A deficient mice are viable, fertile, and smaller in size. Maoa is a mitochondrial enzyme which oxidizes neurotransmitters and dietary amines. Defects in Maoa have been associated with Brunner syndrome, characterized by mental retardation, impulsive behavior, sleep disorders and mood swings. These mice exhibit impulsive aggressiveness, decreased locomotor activity in novel environments, and immobility during tail suspension. These mice may be useful for studying MAOA-related behaviors and disorders. | ||
| 002779 | 129S-Parp1tm1Zqw/J | Repository- Live |
| Mice that are homozygous null for the targeted gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Although a shortened transcript is generated, no enzymatic activity is detected in tissues. Proliferation of homozygous-null fibroblasts and thymocytes is impaired following gamma-radiation in comparison to cells derived from wild-type mice. Older mice are susceptible to spontaneous development of skin disease. A significant portion of older mice ( ~30%) can be expected to exhibit epidermal hyperplasia. Null mice are also less susceptible to damage induced by the neurotoxin MPTP. | ||
| 013175 | B6(Cg)-Grntm1.1Aidi/J | Repository- Live |
| In these Grn-/- mice exons 1-4 are deleted from the targeted granulin (Grn) allele. Homozygotes are viable, fertile, and normal in size. These mice show progressive development of frontotemporal dementia-like behavior and neuropathology. This includes enhanced activation of microglia and astrocytes, and ubiquitination and cytoplasmic accumulation of phosphorylated transactivation response element DNA binding protein-43 (TDP-43) in hippocampal and thalamic neurons. By eighteen months they demonstrate impaired spatial learning and memory. Macrophages from these mice release less interleukin-10 and more inflammatory cytokines in response to microbial agents. Contrary to increased inflammation, these mice exhibit a delay in clearing infections due to a dysregulated inflammatory response, allowing bacteria to proliferate in vivo. Activated PGRN-deficient macrophages and microglia are cytotoxic to hippocampal cells, and PGRN-deficient hippocampal slices are hypers ..... For more information please see the full phenotype on the strain data sheet | ||
| 017895 | B6.129(Cg)-Cln3tm1.1Mem/J | Repository- Live |
| These mice carry a 1.02kb deletion mutation that recapitulates the most common mutation (>80%) found in juvenile-onset neuronal ceroid lipofuscinosis (JNCL) patients.
Mice that are homozygous for the targeted mutation on the C57BL/6 background are viable and fertile. Northern blot and RT PCR analyses of kidney, liver and brain tissue from homozygotes detect mutant mRNA. Truncated polypeptide and non-truncated alternatively spliced gene products are present. Autofluorescent lysosomal material containing immunoreactive ATPase subunit c are found in the brain and heart. Homozygous mice on the C57BL/6N background exhibit progressive retinal degeneration starting at 20 weeks of age. At 10-14 weeks of age homozygotes display slight deficits in sensory and motor tasks. Increased rectal body temperature and minimum oxygen consumption are observed in homozygotes 12-13 weeks of age. The heart weight of 20 week old homozygotes is slightly increased, although cardiac function is normal in ..... For more information please see the full phenotype on the strain data sheet | ||
| 008597 | B6.129-Ppargc1atm1Brsp/J | Repository- Live |
| Mice that are homozygous for this targeted mutation are fertile, normal in size and do not display any gross physical or behavioral abnormalities. Approximately half of homozygotes exhibit postnatal lethality. The Donating Investigator reports maintaining homozygous pups at a higher temperature (77°F) increases their survival. No gene product (mRNA or protein) is detected by RNA hybridization, real-time PCR analysis of skeletal muscle or liver, or Western blot analysis of brown fat. Histological examination of the brown fat from homozygotes reveals abnormal accumulation of large lipid droplets. Examination of brain tissue shows spongiform lesions and gliosis. When fed a high fat diet homozygotes have increased insulin sensitivity, glucose tolerance and reduced body weight. After 24 hours of fasting, homozygotes develop mild hypoglycemia. Mutants have impaired mitochondrial function and gluconeogenesis and are hypermetabolic as well as hyperactive. Homozygotes are unable to survive ..... For more information please see the full phenotype on the strain data sheet | ||
| 004146 | B6.129-Tg(Pcp2-cre)2Mpin/J | Repository- Live |
| These transgenic mice express a cre gene inserted into exon 4 of a Pcp2 gene. Mice homozygous for the insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Recombinase activity is observed in most Purkinje cells and some retinal bipolar neurons. Small amounts of activity are observed in an unidentified population of cells of the central nervous system tissue. Recombination is first observed around postnatal day 6 and is fully established 2 to 3 weeks after birth. | ||
| 016522 | B6.129P2-Htttm2Detl/100J | Repository- Live |
| Although the 100 CAG repeat length is similar to the repeat size range observed in a few patients with Huntington's disease, these mutant mice have no discernable abnormality upon casual inspection. Mice may have subtle defects not yet reported and might also serve as a control for repeat length dependent phenotype for longer repeat Hdh mutant strains. Mice homozygous for the targeted allele are viable and fertile. After 30 weeks of age mutant mice may become infertile.
This strain is one of a set of different CAG/polyQ repeat length mutants derived from HdhQ150 (STOCK no. 004595 ). The set includes, STOCK numbers: 016521, 016522, 016523, 016524, 016525 ..... | ||
| 016523 | B6.129P2-Htttm2Detl/200J | Repository- Live |
| As early as 9 weeks of age heterozygous mice exhibit cytoplasmic aggregation foci of HTT (huntingtin) protein, and by 20 weeks of age exhibit striatal neuronal intranuclear inclusions (NIIs). By 40 weeks of age, the striatal aggregation foci are perinuclear and exhibit increased immunoreactivity for ubiquitin and autophagosome marker LC3. Heterozygotes exhibit impaired balance and diminished motor coordination by 50 weeks of age, and abnormal gait by 60 weeks. By 80 weeks of age, heterozygotes display loss of grip strength, striatal and cortical astrogliosis, and a loss of approximately 50% of striatal dopamine receptor binding with increased glial fibrillary acidic protein immunoreactivity. Increased glial fibrillary acidic protein immunoreactivity is present in the striatum and ubiquititin- and huntingtin-positive neuronal intranuclear inclusions (NIIs) are detected throughout the dorsal striatum, nucleus accumbens and to a lesser extent other regions of the brain. Mutant CAG/poly ..... For more information please see the full phenotype on the strain data sheet | ||
| 016524 | B6.129P2-Htttm2Detl/250J | Repository- Live |
| HdhQ250 mutant mice exhibit a visibly abnormal phenotype at an earlier age as compared to the HdhQ150 strain (STOCK no. 004595 ), but have yet to be fully characterized. Mutant CAG/polyQ repeat expression is slightly lower than wildtype levels as detected by Western blot analysis and qRTPCR of brain tissue. Mutant mice may be noticeably smaller than wild-type littermates. Mice homozygous for the targeted allele are viable and fertile. Onset of symptoms occurs earlier for homozygotes than for heterozygotes. After 20 weeks of age mutant mice may become infertile. The Donating Investigator reports that homozygotes do not breed well.
This strain is one of a set of different CAG/polyQ repeat length mutants derived from HdhQ150 (STOCK no. 004595 ). The set includes, STOCK numbers: 016521, For more information please see the full phenotype on the strain data sheet | ||
| 016521 | B6.129P2-Htttm2Detl/50J | Repository- Live |
| Although the 50 CAG repeat length is similar to the repeat size range observed in patients with Huntington's disease, these mutant mice exhibit no discernable disease phenotype. These mutant mice may have subtle defects not yet reported and may serve as a control for repeat length dependent phenotype for longer repeat Hdh mutant strains. Mice homozygous for the targeted allele are viable and fertile. After 30 weeks of age mutant mice may become infertile. This strain is one of a set of different CAG/polyQ repeat length mutants derived from HdhQ150 (STOCK no. 004595 ). The set includes, STOCK numbers: 016521, 016522, 016523, 016524, 016525. | ||
| 005540 | B6.129S-Tnftm1Gkl/J | Repository- Live |
| Mice homozygous for the targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does not affect the degree of obe ..... For more information please see the full phenotype on the strain data sheet | ||
| 004133 | B6.129S7-Apptm1Dbo/J | Repository- Live |
| At birth, mice homozygous for the targeted allele are viable, and do not display any gross physical or behavioral abnormalities. No App gene product (mRNA or protein) is detected. Body weight is 15-20% less than that observed in wildtype age-matched control mice. By 14 weeks of age the mice exhibit evidence of reactive gliosis. Neurological evaluation reveals significantly reduced forelimb grip strength and decreased locomotor activity. This mutant strain offers a model useful in studies related to Alzheimer's disease. | ||
| 002973 | B6.129S7-Sod2tm1Leb/J | Repository- Live |
| Mice homozygous for the Sod2tm1Leb targeted mutation die within 21 days after birth. They exhibit severe wasting and are clearly much smaller, weaker,and less coordinated than their wildtype and heterozygous littermates. Homoyzotes exhibit several novel pathogenic phenotypes including severe anemia, degeneration of neurons in the basal ganglia and brainstem, progressive motor disturbances, and myocardial injury. | ||
| 012453 | B6.129X1(FVB)-Lrrk2tm1.1Cai/J | Repository- Live |
| Homozygous (Lrrk2-/-) mice are viable and fertile with no reported developmental or gross physical abnormalities. Exon 2 is deleted from the targeted Lrrk2 allele resulting in a premature stop codon in exon 3. No full length LRRK2 protein is detected in brain tissue. Lrrk2-/- mice show no apparent elevation of reactive astrocytosis or somatic accumulation of alpha-synuclein, both of which correlate with neurodegeneration in Parkinson's Disease patients. Deletion of Lrrk2 promotes the extension of neurites by suppressing the phosphorylation of the ezrin, radixin, and moesin (ERM) family of proteins and decreasing the content of F-actin in filopodia. These mice may be useful for studying Parkinson's disease pathogenesis and neurodegeneration. | ||
| 018069 | B6.129X1-Sarm1tm1Aidi/J | Repository- Live |
| Sarm1, sterile alpha and HEAT/Armadillo motif containing 1, also known as MyD88-5, is highly conserved across phyla, expressed predominantly in neurons, is a member of the TIR domain-containing family of adaptor molecules for Toll-like receptors, and promotes neurodegeneration. Mice that are homozygous for this targeted mutation of Sarm1 are viable and fertile. No gene product (protein) is detected by Western blot analysis of brain from homozygotes. Homozygotes are less sensitive to oxygen and glucose deprivation induced cell death in a model for neuronal viability in hippocampal slices. TLR-mediated signaling pathways in homozygotes are not altered. During backcrossing, the Y chromosome has been fixed to the C57BL/6 genetic background. | ||
| 000537 | B6.BR-Agtpbp1pcd/J | Repository- Live |
| Mice homozygous for the Purkinje cell degeneration spontaneous mutation (Agtpbp1pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photor ..... For more information please see the full phenotype on the strain data sheet | ||
| 012910 | B6.Cg-Fxntm1Mkn Tg(FXN)YG22Pook/J | Repository- Live |
| The YG22 transgenic founder line carries a single copy of the human FXN gene with one GAA trinucleotide repeat sequence of 190 repeats. High levels of human FXN gene product (mRNA and protein) are detected by RT-PCR and Western blot analysis. 40-50% of the endogenous mouse Fxn gene product (protein) is detected by Western blot analysis in mice heterozygous for the targeted mutation alone. Mice that are homozygous for the targeted allele and hemizygous for the transgene exhibit an age dependent, tissue specific expansion of the GAA repeat, with expansion accumulation in the CNS (particularly cerebellum), similar to the human pathology. The GAA triplet repeat exhibits intergenerational instability. Mice that are homozygous for the targeted allele and hemizygous for the transgene exhibit progressive retinal degeneration, impaired and decreased locomotor activity and coordination, and an increase in body weight. At 9 months of age, muscle strength is decreased. Al ..... For more information please see the full phenotype on the strain data sheet | ||
| 018282 | B6.Cg-Mapttm1(Mecp2)Jae/LimmJ | Repository- Live |
| The Tau-MeCP2 knockin mutation places the mouse MeCP2 cDNA sequence into exon 1 of the tau gene, in-frame with the endogenous tau start codon. Under control of the endogenous tau promoter/enhancer sequences, expression of the Tau-MeCP2 fusion protein (containing the first 31 amino acids of tau fused to the MeCP2 protein) is high in lung and kidney, low in heart, and very low in liver and spleen. Endogenous tau expression is abolished in the Tau-MeCP2 knockin allele. The axonal localization signal of tau is located in the 3' UTR, and therefore is not part of the Tau-MeCP2 mRNA. The onset of fusion protein expression correlates closely with endogenous tau expression (first detectable at 10.5 days post coitum [dpc]). While the amount of Mecp2 RNA is similar to Tau-MeCP2 RNA in heterozygous Tau-MeCP2 mice embryos and adult brain, the fusion protein expression level is approximately two-to-four times more abundant; suggesting a difference in either translation efficiency of the trans ..... For more information please see the full phenotype on the strain data sheet | ||
| 018546 | B6.Cg-Mirc21tm1.1Aven/J | Repository- Live |
| The miR-34 family of miRNAs (miR-34a, miR-34b, and miR-34c) are expressed mainly in the testis, brain, and lung. miR-34 proteins are induced upon p53 activation and are associated with tumor suppression, aging, neurodegeneration, and spermatogenesis. Mirc21 is a micro RNA cluster including Mir34c through Mir34b. In this strain, an frt-flanked neomycin cassette was used to disrupt Mirc21; the neomycin cassette was subsequently removed. Homozygous Mirc21-/- mice are viable and fertile. When bred to miR-34a-/- mice (derived from Stock No. 018545 after ubiquitous cre recombination), the resultant mice lack all three miR-34 family members, show normal development and an intact p53 pathway. | ||
| 007963 | B6.Cg-Smn1tm2Mrph/J | Repository- Live |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 007966 | B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/J | Repository- Live |
| The Smn rescue allele (SmnRes; also called Smn1 conditional inversion or Smn1 COIN) is a functional null in the non-recombined state. As such, homozygous animals are embryonic lethal. Prior to Cre recombination, no full-length SMN transcript is detected in somatic tissue by RT-PCR. No spontaneous inversion of the allele is reported in the absence of Cre recombinase. The SmnRes allele is designed to revert to a fully functional SMN upon exposure to Cre recombinase. Specifically, Cre recombinase irreversibly inverts the fragment bordered by the lox71 and lox66 sites, and the resulting allele is "rescued" into a format that contains mouse Smn1 exons 1-7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the Cre recombinase-induced rescue allele contains mouse Smn1 exon 7. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.
Importation of this mo ..... | ||
| 006149 | B6.Cg-Tg(ACTA1-cre)79Jme/J | Repository- Live |
| Mice hemizygous for this HSA-Cre79 transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These HSA-Cre79 transgenic mice have the cre recombinase gene driven by the human alpha-skeletal actin (HSA or ACTA1) promoter. Cre activity is restricted to adult striated muscle fibers and embryonic striated muscle cells of the somites and heart. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in striated muscle-specific deletion of the flanked genome. Specifically, these HSA-Cre79 (or ACTA1-Cre) transgenic mice were originally used to breed with mice heterozygous for a deletion of exon 7 and a loxP-flanked exon 7 mutation on homologous chromosomes of the Smn1 gene (see Stock No. 006138 or Stock No. 006146). The resulting offspring ( ..... For more information please see the full phenotype on the strain data sheet | ||
| 006471 | B6.Cg-Tg(HDexon1)61Gpb/J | Repository- Live |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In this founder line (61Gpb), as well as another similar line (62Gpb, see Stock No. 006494), the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for this 61Gpb line. These HDexon1 ..... For more information please see the full phenotype on the strain data sheet | ||
| 006823 | B6.Cg-Tg(Prnp-SNCA*A53T)23Mkle/J | Repository- Live |
| The donating investigator reports that homozygous mice are not viable. Mice hemizygous for the MoPrP-Hualpha-Syn(A53T) transgene are viable and fertile, but the donating investigator reports that female carriers do not breed well. These Hualpha-Syn(A53T) mice (also called G2-3(A53T), Hualpha-Syn(A53T), PrPsynA53T, or A53TαS Tg mice [line G2-3(A53T)]) express the familial Parkinson's disease-associated A53T missense mutant form of human alpha-synuclein (alpha-Syn or αS). Northern blot analysis shows high transgene expression in brain tissues is directed primarily to the hindbrain by the mouse prion protein promoter. Transgenic mice from line G2-3(A53T) express the A53T mutant alpha-Syn protein at approximately six times the level of endogenous mouse alpha-Syn. Hemizygous mice spontaneously develop adult-onset neurodegenerative disease between 9-16 months of age (mean age of onset is approximately 13 months, approximately 90% penetrant), with a progressive motoric dysfunction ..... For more information please see the full phenotype on the strain data sheet | ||
| 010700 | B6.Cg-Tg(Prnp-TARDBP*A315T)95Balo/J | Repository- Live |
| Mice hemizygous for this Prp-TDP43A315T transgene are viable, fertile, and express a mutant human TAR DNA binding protein (TARDBP or TDP-43) cDNA harboring an N-terminal Flag tag and an A315T amino acid substitution that is associated with familial Amyotrophic Lateral Sclerosis (ALS). Expression is directed throughout the nervous system by mouse prion protein (PrP or Prnp) promoter/enhancer regions.
Hemizygous mice were originally published on a mixed C57BL/6;CBA genetic background and develop a progressive gait disorder around 3-4 months of age with death around 5 months of age. For hemizygous mice on a mixed C57BL/6;CBA genetic background, the donating investigator reports that, on average, males die almost one month earlier than females. Due to continued backcrossing to C57BL/6J at The Jackson Laboratory Repository, this strain is now fully congenic on a C57BL/6J background. Survival differences between male and female hemizygous mice are still obser ..... | ||
| 016149 | B6.Cg-Tg(SOD1*G37R)1Dwc/J | Repository- Live |
| The LoxSOD1G37R transgene has loxP sites flanking a human G37R mutant superoxide dismutase 1, soluble gene sequence (SOD1*G37R) that is characterized as an enzymatically active, "gain of adverse function" mutation. SOD1 is a widely expressed isozyme responsible for destroying free superoxide radicals. SOD1 mutations, including SOD1*G37R, are known to cause Amyotrophic Lateral Sclerosis (ALS). Hemizygotes mice are viable and fertile. These mice develop symptoms and pathology resembling human ALS, including progressive weight loss from denervation-induced muscle atrophy and paralyzation. Transgenic mice develop the fatal progressive motor neuron disease and die by 12-14 months of age, with neuron death in 55% of spinal motor neurons.
When LoxSOD1G37R transgenic mice are bred to mice expressing tissue-specific Cre recombinase, the resulting offspring will have the floxed-SOD1*G37R transgene deleted in the cre-expressing tissue ..... For more information please see the full phenotype on the strain data sheet | ||
| 008229 | B6.Cg-Tg(SOD1*G37R)29Dpr/J | Repository- Live |
| Mice hemizygous for this G37R-SOD1 transgene are viable and fertile. The expressed G37R mutant form of human SOD1 is characterized as an enzymatically active, "gain of adverse function" mutation. Hemizygotes develop symptoms and pathology resembling human Amyotrophic Lateral Sclerosis (ALS), with paralyzation in one or more limbs attributable to the loss of motor neurons from the spinal cord. Death occurs around six to eight months of age for transgenic mice on a mixed genetic background. On a congenic C57BL/6 background transgenic mice survive over a year (median lifespan 376 days, Ezzi et al. 2010).
Transgenic mice from this founder line (line 29) express a moderate (7-fold) increase in SOD1 activity in spinal cord, with pathology restricted to motor neurons in the spinal cord and brainstem. Like wild-type SOD1, the G37R mutant SOD1 protein also forms monomer-misfolded oligomers associated with degenerating motor neurons. These G37R-SOD1 transgenic mice may be useful i ..... For more information please see the full phenotype on the strain data sheet | ||
| 008342 | B6.Cg-Tg(SOD1*G37R)42Dpr/J | Repository- Live |
| Mice hemizygous for this G37R-SOD1 transgene are viable and fertile. The expressed G37R mutant form of human SOD1 is characterized as an enzymatically active, "gain of adverse function" mutation. Hemizygotes develop symptoms and pathology resembling human Amyotrophic Lateral Sclerosis (ALS), with paralyzation in one or more limbs attributable to the loss of motor neurons from the spinal cord. Transgenic mice from the highest expressing founder line (G37R(42) or line 42) express a 14-fold increase in SOD1 activity in spinal cord High expression of G37R-SOD1 is associated with ALS pathology in motor neurons of the spinal cord and brainstem, widespread degenerative changes in other neuronal populations, and mild-to-moderate vacuolar changes in kidney. These high-expressing G37R(42) (or G37R-SOD1 line 42) transgenic mice may be useful in studying neuromuscular disorders, including Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).
The original publication by Wong et al ..... | ||
| 004435 | B6.Cg-Tg(SOD1*G93A)1Gur/J | Repository- Live |
| Mice hemizygous for this SOD1-G93A (also called G93A-SOD1) transgene are viable and fertile, with transgenic expression of a G93A mutant form of human SOD1. This founder line (often referred to as G1H) is reported to have high transgene copy number. Hemizygotes exhibit a phenotype similar to amyotrophic lateral sclerosis (ALS) in humans; becoming paralyzed in one or more limbs with paralysis due to loss of motor neurons from the spinal cord. Motor neuron degeneration has been associated with function and/or degeneration of astrocytes, the major glial cell type of the nervous system.
Transgenic mice have an abbreviated life span: 50% survive at 157.1+/-9.3 days (in contrast to the mixed B6SJL background where 50% survival is observed at 128.9+/-9.1 days).
Female hemizygotes are poor breeders, and rarely produce more than one litter before the onset of disease. These SOD1-G93A (also called G93A-SOD1) transgenic mice may be useful in studying neuromuscular disorders, including ..... For more information please see the full phenotype on the strain data sheet | ||
| 013583 | B6.Cg-Tg(tetO-LRRK2)C7874Cai/J | Repository- Live |
| Mice hemizygous for the human leucine-rich repeat kinase 2 transgene, (LRRK2), are viable and fertile. Expression of LRRK2 is regulated by a tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of LRRK2 protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may function as both an active GTPase and kinase. LRRK2 may regulate alpha-synuclein-mediated neuropathology through modulating the intracellular trafficking and accumulation of SNCA protein. These mice may be useful for studying Parkinson's disease pathogenesis and neurodegeneration. | ||
| 002972 | B6;129S-Sod1tm1Leb/J | Repository- Live |
| The SOD1m1BCM knockout allele disrupts exons 1 and 2 of the targeted gene. No protein expression from the targeted locus is detected in brain tissues. Heterozygous mice are viable and fertile. While homozygous males reproduce normally, homozygous females are infertile. Homozygous mice have abnormalities of the retinal ganglion, cochlear ganglion, and female reproductive development/function. Homozygous mice also exhibit age-related deafness, accelerated vascular aging and age-related skeletal muscle defects. These mutant mice may be useful in studying retinal dysfunction, autoimmunity, glaucoma, hearing loss, Alzheimer's Disease, familial amyotrophic lateral sclerosis (ALS), and other age-related disorders. | ||
| 003692 | B6;129X1-Sncatm1Rosl/J | Repository- Live |
| Homozygous null mice are viable, fertile, normal in size and do not display any gross abnormalities. No gene product (mRNA or protein) is detected in brain tissue. A wild-type complement of dopamine neurons, fibers and synaptic terminals is present and the overall brain architecture appears to be intact. They suffer from a reduction in total striatal dopamine and exhibit an attenuated locomotor response when given amphetamine. Normal dopamine release is observed upon stimulation of the nigrostriatal terminal with a single electrical pulse. When multiple stimuli are applied however, null mice exhibit an accelerated recovery of dopamine release. A similar acceleration is seen in wildtype mice in the presence of increased extracellular calcium. The phenotype observed in homozygous Snca-null mice suggests that Snca is an activity-dependent negative regulator of dopamine neurotransmission. | ||
| 016575 | B6;C3-Tg(PDGFB-LRRK2*G2019S)340Djmo/J | Repository- Live |
| G2019S-LRRK2 transgenic mice have a minimal cytomegalovirus (CMV) enhancer and human platelet derived growth factor, B polypeptide (PDGFB) promoter/enhancer elements driving expression of a mutated full length human leucine-rich repeat kinase 2 (LRRK2*G2019S) cDNA. Hemizygotes are viable, fertile, and normal in size. The LRRK2 cDNA was modified to harbor the LRRK2*G2019S mutation associated with autosomal dominant, late-onset Parkinson's Disease (PD) originally identified in multiple Spanish families and patients with PD. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may play a role in regulating alpha-synuclein-mediated neuropathology through modulating the intracellular trafficking and accumulation of SNCA protein. G2019S-LRRK2 is expressed throughout the olfactory bulb, cerebral cortex, hippocampus, striatum, cerebellum, and neurons of the substantia nigra pars compacta. G2019S-LRRK2 is also overexpressed (2.7-f ..... For more information please see the full phenotype on the strain data sheet | ||
| 016576 | B6;C3-Tg(PDGFB-LRRK2*R1441C)574Djmo/J | Repository- Live |
| R1441C-LRRK2 transgenic mice have a minimal cytomegalovirus (CMV) enhancer and human platelet derived growth factor, B polypeptide (PDGFB) promoter/enhancer elements driving expression of a mutated full length human leucine-rich repeat kinase 2 (LRRK2*R1441C) cDNA. Hemizygotes are viable, fertile, and normal in size. The LRRK2 cDNA was modified to harbor the LRRK2*R1441C mutation associated with autosomal dominant, late-onset Parkinson's disease originally identified in family D from Western Nebraska. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may play a role in regulating alpha-synuclein-mediated neuropathology through modulating the intracellular trafficking and accumulation of SNCA protein. R1441C-LRRK2 is selectively overexpressed in the cerebral cortex and cerebellum. These mice display reduced levels of cortical catecholamines, a progressive impairment of locomotor activity and the accumulation of autopha ..... For more information please see the full phenotype on the strain data sheet | ||
| 008169 | B6;C3-Tg(Prnp-MAPT*P301S)PS19Vle/J | Repository- Live |
| These transgenic mice express the P301S mutant human microtubule-associated protein tau, MAPT, under the direction of the mouse prion protein, Prnp, promoter. The expression of the mutant human MAPT is five-fold higher than the expression of the endogenous mouse MAPT protein. Hyperphosphorylated, insoluble mutant human MAPT protein in the brain accumulates with age causing decreased microtubule binding. At three months of age, transgenic mice exhibit clasping and limb retraction when lifted by the tail, which progresses to limb weakness. By 10 months of age the mice exhibit a hunched back and paralysis, followed by inability to feed. Transgenic mice have a median lifespan of approximately nine months with approximately 80% dying by 12 months. Histological analysis reveals neuron degeneration in hippocampus and ventricular dilatation (brain atrophy) by eight months of age, although significant neuron degeneration in the hippocampus occurs at approximately nine months of a ..... For more information please see the full phenotype on the strain data sheet | ||
| 004479 | B6;C3-Tg(Prnp-SNCA*A53T)83Vle/J | Repository- Live |
| Mice homozygous for the transgenic insert are viable and normal in size. These transgenic mice express human A53T variant alpha-synuclein (full-length, 140 amino acid isoform) under the direction of the mouse prion protein promoter. At eight months of age, some homozygous mice develop a progressively severe motor phenotype. Presentation of the phenotype may manifest at 14-15 months of age (on average). Lax grooming, weight loss and diminished mobility precede movement impairment, partial limb paralysis, trembling and inability to stand. Immunohistochemistry analysis of mutants between eight to 12 months of age reveals widely distributed alpha-synuclein inclusions, with dense accumulation in the spinal cord, brainstem, cerebellum and thalamus. The appearance of alpha-synuclein aggregate inclusions parallels the onset of the motor impairment phenotype. Axons and myelin sheaths exhibit progressive ultrastructural degeneration. Immunoelectron microscopy and biochemical analysis show the in ..... For more information please see the full phenotype on the strain data sheet | ||
| 012836 | B6;SJL-Tg(Thy1-TARDBP)4Singh/J | Repository- Live |
| Mice hemizygous for this TDP43 transgene are viable, fertile, and express human TAR DNA binding protein (TARDBP or TDP-43) gene. Expression is directed in neurons throughout the central nervous system by the mouse Thy1 promoter. These TDP-43 transgenic mice exhibit a dose-dependent degeneration of cortical and spinal motor neurons and develop a spastic quadriplegia reminiscent of Amyotrophic Lateral Sclerosis (ALS). They also show degeneration of nonmotor cortical and subcortical neurons characteristic of frontotemporal lobar degeneration (FTLD). Neurons in the affected spinal cord and brain regions showed accumulation of TDP-43 nuclear and cytoplasmic aggregates that were both ubiquitinated and phosphorylated as observed in human ALS/FTLD disease. These mice show abnormal limb reflex by 14 months and 40% reduced motor performance by 15 months of age. The Donating Investigator maintains these mice as hemizygotes and mates carriers to produce homozygotes, which exhibit an acc ..... For more information please see the full phenotype on the strain data sheet | ||
| 003627 | B6C3-Tg(HD82Gln)81Dbo/J | Repository- Live |
| Mice expressing this transgene appear normal at birth through 1-2 months. Mice fail to gain weight, develop tremors, hypokinesis and lack coordination. They exhibit an abnormal gait and frequent hind limb clasping. Life expectancy is 5-6 months. Studies using huntingtin antibodies indicated numerous immunoreactive nuclear inclusions in multiple neuron populations. Neuritic damage is evident. | ||
| 016976 | B6C3-Tg(tetO-SNCA*A53T)33Vle/J | Repository- Live |
| Mice hemizygous for the human synuclein (α-SYN) mutant transgene, (SNCA*A53T) are viable and fertile. Expression of SNCA*A53T is regulated by the tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of SNCA*A53T protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. α-syn is localized mainly in synapses where it regulates synaptic transmission, neuronal plasticity, synaptic vesicle release, and protein folding. Mutations in α-syn cause autosomal dominantly inherited familial Parkinson's disease (PD) by accelerating the formation of fibrillar aggregates causing various forms of cytotoxicity, including impairment of proteasomal and lysosomal activities, disruption of ER-Golgi traffic and microtubule-based transport, a ..... For more information please see the full phenotype on the strain data sheet | ||
| 000501 | B6CBACa Aw-J/A-Aifm1Hq/J | Repository- Live |
| Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 ..... For more information please see the full phenotype on the strain data sheet | ||
| 017907 | B6N.Cg-Tg(Prnp-TARDBP)96Dwc/J | Repository- Live |
| Prp-TDP-43Wild-Type transgenic mice express a myc-tagged, human wildtype TAR DNA binding protein (huTDP-43) cDNA sequence under the direction of the mouse prion protein promoter (PrP). As expected for the PrP promoter, transgene expression is confined primarily to central nervous system (brain and spinal cord), with very low to no expression in other tested tissues (testis not examined). Anti-myc antibody staining shows huTDP-43 accumulation in the nuclei of neurons as well as glial cells of the spinal cord and brain, with a corresponding downregulation of endogenous mouse TDP-43. The transgene is flanked by loxP sites, allowing it to be removed by introduction of Cre recombinase if desired. The phenotype below describes Prp-TDP-43Wild-Type transgenic mice from founder line 96. The Prp-TDP-43Wild-Type mice have moderate overexpression levels in total TDP-43 mRNA/protein, with an ~1.5-fold increase in total TDP-43 expression (huTDP-43-WT levels ..... For more information please see the full phenotype on the strain data sheet | ||
| 017933 | B6N.Cg-Tg(Prnp-TARDBP*Q331K)103Dwc/J | Repository- Live |
| Prp-TDP-43Q331K transgenic mice express a myc-tagged, human TAR DNA binding protein cDNA sequence modified to have the ALS-linked Q331K mutation (huTDP-43*Q331K), all under the direction of the mouse prion protein promoter (PrP). As expected for the PrP promoter, transgene expression is confined primarily to central nervous system (brain and spinal cord), with very low to no expression in other tested tissues (testis not examined). Anti-myc antibody staining shows huTDP-43*Q331K accumulation in the nuclei of neurons as well as glial cells of the spinal cord and brain, with a corresponding downregulation of endogenous mouse TDP-43. The transgene is flanked by loxP sites, allowing it to be removed by introduction of Cre recombinase if desired. The phenotype below describes Prp-TDP-43Q331K transgenic mice from founder line 103 (Prp-TDP-43Q331K [~1.5x]). The Prp-TDP-43Q331K [~1.5x] mice have moderate overexpression levels in total TDP-4 ..... For more information please see the full phenotype on the strain data sheet | ||
| 017930 | B6N.Cg-Tg(Prnp-TARDBP*Q331K)109Dwc/J | Repository- Live |
| Prp-TDP-43Q331K transgenic mice express a myc-tagged, human TAR DNA binding protein cDNA sequence modified to have the ALS-linked Q331K mutation (huTDP-43*Q331K), all under the direction of the mouse prion protein promoter (PrP). As expected for the PrP promoter, transgene expression is confined primarily to central nervous system (brain and spinal cord), with very low to no expression in other tested tissues (testis not examined). Anti-myc antibody staining shows huTDP-43*Q331K accumulation in the nuclei of neurons as well as glial cells of the spinal cord and brain, with a corresponding downregulation of endogenous mouse TDP-43. The transgene is flanked by loxP sites, allowing it to be removed by introduction of Cre recombinase if desired. The phenotype below describes Prp-TDP-43Q331K transgenic mice from founder line 109 (Prp-TDP-43Q331K-low). The Prp-TDP-43Q331K-low mice have approximately the same total TDP-43 mRNA/protein expr ..... For more information please see the full phenotype on the strain data sheet | ||
| 018768 | B6N.Cg-Tg(SNCA*E46K)3Elan/J | Repository- Live |
| These transgenic mice express the mutant human SNCA, synuclein, alpha (non A4 component of amyloid precursor), with the E46K mutation in exon 3. Mice hemizygous for the transgenic insert are viable, fertile, and normal in size. Transgenic mice accumulate alpha synuclein and develop age-dependent dopaminergic (TH) fiber degeneration. The Donating Investigator recommends avoiding crossing to C57BL/6J because the Nnt deletion may have an effect on phenotype. | ||
| 016201 | B6SJL-Tg(Prnp-TARDBP)4Jlel/J | Repository- Live |
| TDP43 transgenic mice express a full length human TAR DNA binding protein (TARDBP or TDP-43) cDNA inserted between exon 2 and exon 3 of the mouse prion protein (Prnp) gene. The transgene in founder line 4 was later found to have integrated on the X chromosome. Hemizygotes are viable and fertile, with mean survival of 109 days. TDP-43 is a ubiquinated protein localized to the nucleus of nerve cells. Accumulations of mutated TDP-43 are involved in the development of Amyotrophic lateral sclerosis (ALS). These mice express human TDP-43 in the spinal cord and skeletal muscle. They develop a late onset progressive motor phenotype, characterized by bilateral proximal weakness, spasticity, reduced spontaneous movements and progressive weight loss. These mice contain a nuclear localized, less truncated form of TDP-43 than that observed in TDP-43*A315T mice (Stock No. 016203). Disease progression is later than that ob ..... For more information please see the full phenotype on the strain data sheet | ||
| 016203 | B6SJL-Tg(Prnp-TARDBP*A315T)23Jlel/J | Repository- Live |
| TDP43A315T transgenic mice express a full-length human TAR DNA binding protein (TARDBP) cDNA containing an A315T amino acid substitution. Expression is directed by the mouse prion protein (Prnp) promoter. Hemizygotes from founder line 23 are viable and fertile. These mice display an increase in mean survival as compared with TDP43A315T transgenic mice on a STOCK background (Stock No. 016143). The data shows that hemizygous males have median survival of 125 days, while hemizygous females have median survival of 157 days. In neurons of patients with Amyotrophic lateral sclerosis (ALS), ubiquitin and TDP43 positive inclusions are observed. These mice express high levels of A315T TDP-43 in spinal cord, brainstem and brain. Specifically, levels in spinal cord are four-fold that of levels seen in non-transgenic mice. They develop a late onset progressive motor phenotype, characterize ..... For more information please see the full phenotype on the strain data sheet | ||
| 002297 | B6SJL-Tg(SOD1)2Gur/J | Repository- Live |
| This transgenic strain carries the normal allele of the human SOD1 gene. Originally published as N1029, it has been reported that the SOD1 protein level is the same as in the transgenic strain carrying the SOD1*G93A transgene (002726), even though the copy number in the SOD1*G93A transgenic is higher. This strain serves as a control for the B6SJL-Tg(SOD1*G93A)1Gur/J (002726) and the B6SJL-Tg(SOD1*G93A)dl1Gur/J (002300) strains. | ||
| 003092 | BALB/cNctr-Npc1m1N/J | Repository- Live |
| Mice homozygous for the recessive NIH allele of the Niemann Pick type C1 gene (Npc1m1N) show a dual deficiency of sphingomyelinase and glucocerebrosidase activity. The overall phenotype resembles the sphingomyelinosis condition seen in mice homozygous for the sphingomyelinosis allele (Npc1spm, Stock No. 002760). Sphingomyelinosis mutant mice begin to lose weight and to show tremor and ataxic gait at about 7 weeks of age. Weight loss continues and tremor and ataxia become more severe until death at about 12 to 14 weeks of age. The liver and spleen are also enlarged and Purkinje cells in the cerebellum are severely depleted. Sphingomyelin and free cholesterol are markedly elevated in liver and spleen but not in brain. Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients. | ||
| 016120 | C57BL/6-Lrrk1tm1.1Mjff/J | Repository- Live |
| These mice lack exons 24-29 of the leucine-rich repeat kinase 1 (Lrrk1) gene, abolishing gene function. LRRK1 is a gene homolog of Lrrk2, mutations of which have been associated with Parkinson's disease. LRRK1 regulates endosomal trafficking of the EGF receptor. These mice may be useful for studying the role of Lrrk1 in the progression of Parkinson's Disease. Preliminary evidence from colonies at The Jackson Laboratory indicates that homozygous mice do not survive to wean age at the expected frequency. An investigation into when homozygotes are lost is ongoing (April 2012). | ||
| 017955 | C57BL/6-Tg(Gfap-rtTA,tetO-MAOB,-lacZ)1Jkan/J | Repository- Live |
| Monoamine oxidase B catalyzes dopamine oxidative de-amination predominantly in glial cells, producing large amounts of reactive oxygen species. Monoamine oxidase B inhibitors act to increase synaptic dopamine by blocking degradation and are used in treatment to delay the progression of symptoms of Parkinson's disease.
These transgenic mice have inducible astroglia-specific expression of human MAOB (monoamine oxidase B) and lacZ (beta-galactosidase) under the control of the tetO, tetracycline-responsive regulatory element. Administration of doxycycline induces an approximately 2.5 fold increase in astrocyte-specific expression of MAOB. Transgene expression is detected only after induction in the brain by RT-PCR and specifically in astrocytes by immunohistochemical analysis. Induced elevated levels of MAOB result in progressive loss of dopaminergic neurons in the substantia nigra, a decrease in mitochondrial complex I activity and an increase in mitochondrial oxidative st ..... For more information please see the full phenotype on the strain data sheet | ||
| 016608 | C57BL/6-Tg(Prnp-TARDBP)3cPtrc/J | Repository- Live |
| TDP-43PrP transgenic mice express a full length wild type human TAR DNA binding protein (TARDBP or TDP-43) cDNA under control of the prion protein (Prnp) promoter. Hemizygotes are viable, fertile, and normal in size. TDP-43 is a ubiquinated protein localized to the nucleus of cells. Accumulations of TDP-43 are involved in the development of Amyotrophic lateral sclerosis (ALS). These mice express wildtype human TDP-43 primarily in the nuclei of neurons throughout much of the gray matter of the spinal cord and brain, including the hippocampus, striatum, brainstem and cortex. Homozygotes and hemizygous express TDP-43 in brain at 2.5 and 1.9-fold endogenous TDP-43 levels, respectively. Endogenous TDP-43 is down-regulated in response to transgene overexpression. Beginning at 14 days of age, homozygous TDP-43PrP are smaller than hemizygous littermates. By 21 days of age homozygotes develop body tremors, have difficulty walking, and devel ..... For more information please see the full phenotype on the strain data sheet | ||
| 017604 | C57BL/6-Tg(Prnp-TARDBP*M337V)4Ptrc/J | Repository- Live |
| These hTDP-43M337V transgenic mice express a full length mutant human TAR DNA binding protein (TARDBP or TDP-43) cDNA under the direction of a mouse prion protein promoter. The cDNA is modified such that at codon 337, a methionine to replaced by a valine(M337V). The M337V mutation is associated with increased low molecular weight fragments, neuronal apoptosis and developmental delay in chick embryos. TDP-43 is a ubiquinated protein localized to the nucleus of cells. Accumulations of TDP-43 are associated with the development of Amyotrophic lateral sclerosis (ALS). Hemizygotes are viable, fertile, and normal in size, while homozygotes are initially viable with 70% dying within the first month of life. These mice express human TDP-43M337V primarily in the nuclei of neurons throughout much of the gray matter of the spinal cord and brain, including the brainstem and cortex. Homozygotes and hemizygous express TDP-43M337V in brain at 2.7 and 1.9-fo ..... For more information please see the full phenotype on the strain data sheet | ||
| 008239 | C57BL/6J-Tg(Th-SNCA*A30P*A53T)39Eric/J | Repository- Live |
| These hm2α-SYN-39 mice express a doubly-mutant form of human alpha-synuclein (hα-SYN) containing the A30P and A53T human mutations associated with autosomal dominant Parkinson's disease, under the control of the rat tyrosine hydroxylase promoter. Expression of hα-SYN is detected in cell bodies, axons, and terminals of the nigrostriatal system (mRNA expression in midbrain, eye, and adrenal gland, with high levels of protein expression in the cell bodies of dopaminergic neurons in the midbrain and striatum). Hemizygous mice exhibit several Parkinson's disease-related characteristics including increased density of the dopamine transporter, impairments of the ubiquitin-proteasome system, and age-related progressive loss of locomotor activity and substantia nigra pars compacta dopaminergic neurons. The Parkinson's disease-related phenotype of hm2α-SYN-39 mice is more severe than that of the control strain (hwα-SYN-5, see Stock No. > ..... For more information please see the full phenotype on the strain data sheet | ||
| 016121 | C57BL/6N-Lrrk2tm1.1Mjff/J | Repository- Live |
| These mice lack exons 39-40 of the leucine-rich repeat kinase 2 (Lrrk2) gene, abolishing gene function. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may function as both an active GTPase and kinase. LRRK2 may regulate alpha-synuclein-mediated neuropathology through modulation of intracellular trafficking and accumulation of SNCA protein. These mice may be useful for studying the role of Lrrk2 in the progression of Parkinson's Disease. | ||
| 016936 | C57BL/6N-Tg(Thy1-SNCA)12Mjff/J | Repository- Live |
| mThy1-hSNCA transgenic mice have the mouse thymus cell antigen 1 (Thy-1) promoter directing expression of the human α-synuclein (SNCA) gene. Hemizygotes are viable, fertile, and normal in size. This line carries ~23 copies of the transgene; expression is relatively high in the cerebral cortex and hippocampus, and relatively low in the kidneys. These mice may be useful for studying the Parkinson's disease pathogenesis and neurodegeneration elicited by the toxic effects of aggregation and somatic accumulation of SNCA.
There is a different founder line with the same construct available, stock number 17682, which has about 2-fold higher expression of the transgenic protein in the striatum and cortex. | ||
| 017682 | C57BL/6N-Tg(Thy1-SNCA)15Mjff/J | Repository- Live |
| mThy1-hSNCA transgenic mice express the human α-synuclein gene under the direction of the mouse thymus cell antigen 1 promoter. Hemizygotes are viable, fertile, and normal in size. This line carries 1-2 copies of the transgene. These mice may be useful for studying Parkinson's disease pathogenesis and neurodegeneration elicited by the toxic effects of aggregation and somatic accumulation of SNCA. | ||
| 014084 | CBA/J-agil3J/GrsrJ | Repository- Live |
| Mice homozygous for the agitans-like 3 Jackson mutation can be detected by 2 weeks of age by a wobbling gait and the propensity to retract the hind legs when picked up by the tail. They are smaller than their littermates and most die before adulthood. Homozygotes fail to breed. | ||
| 007082 | CByJ.129S(B6)-Tnftm1Gkl/J | Repository- Live |
| Mice homozygous for the Tnftm1Gkl targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does ..... For more information please see the full phenotype on the strain data sheet | ||
| 004938 | FVB-Tg(YAC128)53Hay/J | Repository- Live |
| These transgenic mice express the human huntingtin protein containing a 128 CAG repeat expansion. Human huntingtin mRNA and protein is detected. Hyperkinesis begins at 3 months of age with progressive motor impairment appearing at 6 months of age. This is followed by progressive neurodegeneration, starting at 9 months of age, and hypokinesis at 12 months. The motor dysfunction, Rotorod deficit, is correlated with neuronal loss. Mutants exhibit decreased brain weight and reduced striatal and cortical volumes. 18% shrinkage of striatal neurons is observed in 12 month old mutants. A significant decrease (15%) in the number of striatal neurons occurs by 12 months of age. Nuclear huntingtin aggregate inclusions of striatal neurons from 18 month old mutant mice are detected at the light microscopy level. This mutant mouse strain represents a model that may be useful in studies of Huntington's disease. | ||
| 015815 | FVB-Tg(tetO-MAPT*P301L)#Kha/JlwsJ | Repository- Live |
| The tetO-MAPT*P301L transgene contains a tetracycline operator (tetO) driving expression of the human four-repeat microtubule-associated protein tau (MAPT) gene. The transgene also contains the frontotemporal dementia-associated P301L mutation sequences (tauP310L) and untranslated sequence from the mouse prion protein gene (Prnp) driving transgene expression in the brain. Homozygous mice are not viable. When mated to a mutant strain expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA), expression of tauP301L protein may be regulated with the tetracycline analog doxycycline (dox) in the double mutant offspring.
When bred to mice expressing tTa under regulatory control of the forebrain-specific calcium-calmodulin-dependent kinase II (Camk2a) promoter (see Stock No. 003010), bitransgenic mice expressing a ..... | ||
| 008820 | FVB.B-WldS/UmonJ | Repository- Live |
| The Wallerian degeneration slow spontaneous mutation, Wlds arose on the C57BL/Ola background. On the congenic FVB/N background, mice that are homozygous for this mutation exhibit delayed Wallerian degeneration compared to wildtype controls. Wallerian degeneration is the process of degeneration, after transection, of axons distal to the sever site of a peripheral nerve, and includes infiltration of macrophages, demyelination and initiation of Schwann cell mitosis. The Wlds mutation is widely expressed and is detected in neural tissue. | ||
| 005058 | FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J | Repository- Live |
| Mice that are homozygous for the Smn1 targeted mutation and homozygous for the SMN2 transgene are viable, fertile and exhibit short and thickened tails. RT-PCR analysis detects alternative splicing of the transgene. Histological examination of tail tissue reveals atrophic muscles and subcutaneous edema. Skeletal muscle tissue has fewer myocytes and atrophic muscle bundles. Large motor neurons in the anterior horns of the spinal cord degenerate and are lost. There is a strong correlation between estimated copy number of the transgene and severity of the neurodegenerative phenotype. Mice that are homozygous for the targeted mutation and do not carry the transgene have an embryonic lethal phenotype, failing to survive past embryonic day 6.5. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 007955 | FVB.Cg-Smn1tm2Mrph/J | Repository- Live |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 007964 | FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J | Repository- Live |
| The Smn rescue allele (SmnRes; also called Smn1 conditional inversion or Smn1 COIN) is a functional null in the non-recombined state. As such, homozygous animals are embryonic lethal. Prior to Cre recombination, no full-length SMN transcript is detected in somatic tissue by RT-PCR. No spontaneous inversion of the allele is reported in the absence of Cre recombinase. The SmnRes allele is designed to revert to a fully functional SMN upon exposure to Cre recombinase. Specifically, Cre recombinase irreversibly inverts the fragment bordered by the lox71 and lox66 sites, and the resulting allele is "rescued" into a format that contains mouse Smn1 exons 1-7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the Cre recombinase-induced rescue allele contains mouse Smn1 exon 7. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.
Importation of this mo ..... | ||
| 012252 | FVB.Cg-Tbcepmn/J | Repository- Live |
| Mice that are homozygous for this spontaneous mutation are viable but die prematurely. Onset of locomotor impairment with corresponding motor neuron and muscular degeneration occurs at 2 to 3 weeks of age. Atrophy and paralysis starts in the hind limbs and pelvic girdle and is progressive. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. Electrophysiological deficiencies are detected by 13 days of age, before the neurodegeneration is clinically visible. Electron microscopic analysis of sciatic and phrenic nerves reveals a reduced number of microtubules. TBCE protein is destabilized, producing a reduction in tubulin and microtubules in motor neuron axons. Progressive microtubule loss occurs in axons distal to proximal and corresponds to axon degeneration. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly ..... For more information please see the full phenotype on the strain data sheet | ||
| 005024 | FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J | Repository- Live |
| Mice that are homozygous for the targeted mutant Smn1 allele and carry the SMN2 transgene exhibit symptoms and neuropathology similar to patients afflicted with type I proximal spinal muscular atrophy (SMA). In the initial characterization by the donating investigator, mice were either stillborn or survived 4-6 days. Mice that died at or shortly after birth were slightly smaller (1.33 g. vs. 1.51 g.) than normal littermates. Mice that survive for several days are indistinguishable from normal littermates in the first 48 hours, after which they exhibit decreased suckling and movement, labored breathing and tremoring limbs. Mice succumbing at this later time point are noticeably smaller than normal littermates (1.47 g vs. 4.59). A bell-shaped trunk is also noticeable in affected mice, presumably from intercostal muscle weakness, a characteristic of type I SMA. Histological analysis indicates that affected mice that survive to day 5 exhibit a loss of motor neurons from spina ..... For more information please see the full phenotype on the strain data sheet | ||
| 005026 | FVB.Cg-Tg(SMN2)89Ahmb Tg(SMN1*A2G)2023Ahmb Smn1tm1Msd/J | Repository- Live |
| Mice that are homozygous for the targeted mutant Smn allele and homozygous for the SMN2transgene and hemizygous for the SMN1*A2G transgenes exhibit symptoms and neuropathology similar to patients afflicted with type III (mild) proximal spinal muscular atrophy (SMA). These same animals with only one copy of the SMN2transgene are 20%-40% smaller than unaffected mice. At 3 weeks of age they become less active and show signs of muscle weakness. The mice have a shortened lifespan (less than a year) near the end of which they exhibit reduced movement, diminished grooming, shallow breathing and considerable weight loss. Immunohistochemical analysis of spinal cord tissue from 1 month-old animals indicates the presence of cytoplasmic SMN protein and intranuclear aggregates (gems) of the SMN protein. The number of gems is however, fewer than the number found in age matched control tissues. Histological analysis of muscle tissue (gastrocnemius, quadriceps, and intercostals mu ..... For more information please see the full phenotype on the strain data sheet | ||
| 005025 | FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1tm1Msd/J | Repository- Live |
| This triple mutant mouse harbors two transgenic alleles and a single targeted mutant. The Tg(SMN2*delta7)4299Ahmb allele consists of a SMA cDNA lacking exon 7 whereas the Tg(SMN2)89Ahmb allele consists of the entire human SMN2 gene. Mice that are homozygous for the targeted mutant Smn allele and homozygous for the two transgenic alleles exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). At birth, triple mutants are noticeably smaller than normal littermates. By day 5, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait, shakiness in the hind limbs and a tendency to fall over. Mean survival is approximately 13 days. Immunocytochemical analysis indicates that dystrophin expression is normal, however fibers isolated from the gastrocnemius muscle of a 14 day old triple mutant clearly show evidence of atrophy. Importation ..... | ||
| 013199 | FVB.Cg-Tg(SOD1*G93A)1Gur/J | Repository- Live |
| Male mice hemizygous for this SOD1-G93A (also called G93A-SOD1) transgene are viable and fertile, with transgenic expression of a G93A mutant form of human SOD1, superoxide dismutase 1, soluble. This founder line (often referred to as G1H) is reported to have high transgene copy number. The Donating Investigator reports that female hemizygous mice are sterile.
Hemizygotes exhibit a phenotype similar to amyotrophic lateral sclerosis (ALS) in humans; becoming paralyzed in one or more limbs with paralysis due to loss of motor neurons from the spinal cord. Transgenic mice have an abbreviated life span: on a congenic C57BL/6J background, 50% survive at 157.1+/-9.3 days (in contrast to the mixed B6SJL background where 50% survival is observed at 128.9+/-9.1 days). The Donating Investigator reports that mice carrying this transgene on the congenic FVB/NJ background can die as early as 100 days of age.
In an attempt to offer alleles on well-characterized or multiple genetic ba ..... | ||
| 008197 | FVB/N-Tg(HTT*97Q)IXwy/J | Repository- Live |
| Mice hemizygous for the BACHD transgene are viable and fertile. Under the control of endogenous human htt regulatory machinery, BACHD mice have relatively high expression levels of a neuropathogenic, full-length human mutant Huntingtin (fl-mhtt) modified to harbor a loxP-flanked human mutant htt exon 1 sequence (containing 97 mixed CAA-CAG repeats encoding a continuous polyglutamine (polyQ) stretch). Prior to Cre recombinase exposure, BACHD mice exhibit progressive motor deficits, neuronal synaptic dysfunction, and selective late-onset neuropathology without somatic polyQ repeat instability in the aged brain. Moreover, BACHD mice reproduce a mhtt aggregation pattern reminiscent of that in adult-onset Huntington's disease (HD). Importantly, a relatively steady-state level of predominantly fl-mhtt and a small amount of mhtt N-terminal fragments present in both the nucleus and cytoplasm, are responsible for the onset and progression of neuropathology. Upon exposure to ..... For more information please see the full phenotype on the strain data sheet | ||
| 009610 | FVB/N-Tg(LRRK2)1Cjli/J | Repository- Live |
| Mice hemizygous for the BAC LRRK2 transgene are viable and fertile, with expression of a wild-type human leucine-rich repeat kinase 2 (LRRK2) gene directed by its endogenous promoter/enhancer regions on the BAC transgene. These BAC LRRK2 mice (also called WT-OX mice) "overexpress" the wildtype human LRRK2 protein in cortex, cerebellum, striatum and ventral midbrain at an approximately five- to ten-fold greater level than endogenous mouse Lrrk2, and are a control strain for the BAC LRRK2R1441G Parkinson's disease strain (Stock No. 009604). Contrary to the hypokinetic motor deficit of the BAC LRRK2R1441G Parkinson's disease mice, WT-OX mice exhibit slightly increased motor activities compared to nontransgenic wild-type controls. | ||
| 009609 | FVB/N-Tg(LRRK2*G2019S)1Cjli/J | Repository- Live |
| Mice hemizygous for the BAC LRRK2 (G2019S) transgene are viable and fertile, with expression of a mutant form of human leucine-rich repeat kinase 2 (LRRK2*G2019S) associated with autosomal dominant, late-onset Parkinson's disease directed by the endogenous LRRK2 promoter/enhancer regions on the BAC transgene. No behavioral or motor phenotype was detected at 12 months of age. These mice represent an in vivo model for studying the dominant toxic effects of mutant LRRK2*G2019S expression.
Distribution of this strain was supported by the Michael J. Fox Foundation for Parkinson's Research. | ||
| 009604 | FVB/N-Tg(LRRK2*R1441G)135Cjli/J | Repository- Live |
| Mice hemizygous for the BAC LRRK2R1441G transgene are viable and fertile, with expression of a mutant form of human leucine-rich repeat kinase 2 (LRRK2*R1441G) associated with autosomal dominant, late-onset Parkinson's disease directed by the endogenous LRRK2 promoter/enhancer regions on the BAC transgene. LRRK2R1441G mice from founder line RP135 express the mutant protein in cortex, cerebellum, striatum and ventral midbrain at an approximately five- to ten-fold greater level than endogenous mouse Lrrk2. LRRK2R1441G mice exhibit multiple late-onset and progressive characteristics of Parkinson's disease; including hypokinetic motor deficits (reversible with administration of levodopa or apomorphine [a direct-acting dopamine agonist]), progressive dopaminergic neuron dysfunction and degeneration, axon injury pathology, and hyperphosphorylated tau. These LRRK2R1441G mice recapitulate the motor behavioral, neurochemical, and histopa ..... For more information please see the full phenotype on the strain data sheet | ||
| 009090 | FVB/NJ-Tg(Slc6a3-PARK2*Q311X)AXwy/J | Repository- Live |
| Hemizygous Parkin-Q311X(A) mice are viable and fertile, with expression of a FLAG-tagged, C-terminal truncated human parkin-Q311X mutation associated with Turkish early-onset Parkinson's disease directed to dopaminergic neurons of the substantia nigra pars compacta (SNc) and ventral tegmentum area (VTA) by the mouse Slc6a3 promoter/enhancer sequences. Parkin-Q311X(A) mice (derived from founder line A) have expression of the FLAG-tagged parkin-Q311X protein in dopaminergic neurons at a level that is approximately equivalent to or just below that expected from a heterozygous endogenous parkin allele. Parkin-Q311X(A) mice exhibit multiple late-onset and progressive hypokinetic motor deficits, progressive dopaminergic neuron dysfunction and degeneration, and age-dependent accumulation of proteinase K-resistant endogenous alpha-synuclein. Compared to founder line D, Parkin-Q311X(A) mice have a higher transgene copy number that results in more robust and earlier onset of hypokinetic m ..... For more information please see the full phenotype on the strain data sheet | ||
| 009682 | NMRI-Tbcepmn/J | Repository- Live |
| Mice that are homozygous for this spontaneous mutation are viable but die prematurely. Onset of locomotor impairment with corresponding motor neuron and muscular degeneration occurs at 2 to 3 weeks of age. Atrophy and paralysis starts in the hind limbs and pelvic girdle and is progressive. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. Electrophysiological deficiencies are detected by 13 days of age, before the neurodegeneration is clinically visible. Electron microscopic analysis of sciatic and phrenic nerves reveals a reduced number of microtubules. TBCE protein is destabilized, producing a reduction in tubulin and microtubules in motor neuron axons. Progressive microtubule loss occurs in axons distal to proximal and corresponds to axon degeneration. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly ..... For more information please see the full phenotype on the strain data sheet | ||
| 012480 | NOD.Cg-Prkdcscid Il2rgtm1Wjl Hprtb-m3/EshJ | Repository- Live |
| Mice that are homozygous/hemizygous for these alleles are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mutant mice combine the following characteristics: NK cell deficiency (NOD/ShiLtJ background), T and B cell deficiency (Prkdcscid), reduced numbers of lymphocytes and myeloid dendritic cells (Il2rgtm1Wjl) and biochemically defective stromal cells (Hprtbm-3). These mice can be used for transplantation of human primary cancers. During tumor growth, Hprt-defective murine fibroblast and stromal cells replace human stromal cells. In culture, the addition of HAT selection media eliminates murine fibroblasts and other stromal cells and facilitates the isolation of human cancer cells. These mice may be used to generate patient-specific low passage cell lines from primary cancers for use in chemosensitivity profiling and other applications. | ||
| 007069 | STOCK Apoetm1Unc/J | Repository- Live |
| Mice homozygous for the Apoetm1Unc mutation show a marked increase in total plasma cholesterol levels that are unaffected by age or sex. Fatty streaks in the proximal aorta are found at 3 months of age. The lesions increase with age and progress to lesions with less lipid but more elongated cells, typical of a more advanced stage of pre-atherosclerotic lesion. Moderately increased triglyceride levels have been reported in mice with this mutation on a mixed C57BL/6 x 129 genetic background. Aged APOE deficient mice (>17 months) have been shown to develop xanthomatous lesions in the brain consisting mostly of crystalline cholesterol clefts, lipid globules, and foam cells. Smaller xanthomas were seen in the choroid plexus and ventral fornix. Recent studies indicate that APOE deficient mice have altered responses to stress, impaired spatial learning and memory, altered long term potentiation, and synaptic damage.
In an attempt to offer alleles on well-characteri ..... | ||
| 010963 | STOCK Fxntm1Mkn Tg(FXN)YG22Pook/J | Repository- Live |
| The YG22 transgenic founder line carries a single copy of the human FXN gene with one GAA trinucleotide repeat sequence of 190 repeats. High levels of human FXN gene product (mRNA or protein) are detected by RT-PCR and Western blot analysis. 40-50% of the endogenous mouse Fxn gene product (protein) is detected by Western blot analysis in mice heterozygous for the targeted mutation alone. Mice that are homozygous for the targeted allele and hemizygous for the transgene exhibit an age dependent, tissue specific expansion of the GAA repeat, with expansion accumulation in the CNS (particularly cerebellum), similar to the human pathology. The GAA triplet repeat exhibits intergenerational instability. Mice that are homozygous for the targeted allele and hemizygous for the transgene exhibit progressive retinal degeneration, impaired and decreased locomotor activity and coordination, and an increase in body weight. At 9 months of age, muscle strength is decreased. Alt ..... For more information please see the full phenotype on the strain data sheet | ||
| 008398 | STOCK Fxntm1Mkn Tg(FXN)YG8Pook/J | Repository- Live |
| Mice that are heterozygous for the targeted allele and hemizygous for the transgene are viable and fertile. High levels of human FXN gene product (mRNA or protein) are detected by RT-PCR and Western blot analysis. 40-50% of the endogenous mouse Fxn gene product (protein) is detected by Western blot analysis in mice heterozygous for the targeted mutation alone. The YG8 transgenic founder carries two tandem copies of the human FXN gene with two GAA triplet repeat sequences of 82 and 190 repeats. Mice that are homozygous for the targeted allele and hemizygous for the transgene exhibit an age dependent, tissue specific expansion of the GAA repeat, with expansion accumulation in the CNS (particularly cerebellum), similar to the human pathology. The GAA triplet repeat exhibits intergenerational instability.
This mutant mouse strain may be useful in studies of Friedreich's Ataxia. Importation of this model was supported by the Friedreichs Ataxia Research All ..... | ||
| 018545 | STOCK Mir34atm1.2Aven/J | Repository- Live |
| The miR-34 family of miRNAs (miR-34a, miR-34b, and miR-34c) are expressed mainly in the testis, brain, and lung. miR-34 proteins are induced upon p53 activation and are associated with tumor suppression, aging, neurodegeneration, and spermatogenesis. miR-34afl/fl mice possess loxP sites flanking the entire microRNA 34a (miR-34a) sequence. Homozygous miR-34afl/fl mice are viable and fertile. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have miR-34a sequence deleted in the cre-expressing tissues. When crossed to mice expressing CAG-cre, miR-34a-/- mice exhibit abnormal neuronal precursor proliferation. When cre recombined miR-34a-/- mice are bred to Mirc21-/- mice (Stock No. 018546), which are deficient in miR-34b and miR-34c, the double mutant mice lack all three miR-34 family ..... For more information please see the full phenotype on the strain data sheet | ||
| 007951 | STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J | Repository- Live |
| This triple mutant mouse harbors two transgenic alleles and a single targeted mutation. The Tg(SMN2*delta7)4299Ahmb allele consists of a human SMN2 (survival of motor neuron 2, centromeric) cDNA lacking exon 7 whereas the Tg(SMN2)89Ahmb allele consists of the entire human SMN2 gene. Mice that are homozygous for the targeted mutant Smn1tm3(SMN2/Smn1/SMN2)Mrph allele and homozygous for the two transgenic alleles should function similarly to SMA mutant strain FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1tm1Msd/J (Stock No. 005025). The targeted mutant Smn1tm3(SMN2/Smn1/SMN2)Mrph allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.
Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 008783 | STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Tg(CAG-cre/Esr1*)5Amc/J | Repository- Live |
| These SMN2;Δ7;Cre-ER;SmnRes mice harbor multiple mutations/transgenes. The Smn rescue allele (SmnRes; also called Smn1 conditional inversion or Smn1 COIN) is a functional null in the non-recombined state. Prior to Cre recombination, no full-length SMN transcript is detected in somatic tissue by RT-PCR. No spontaneous inversion of the allele is reported in the absence of Cre recombinase. The SmnRes allele is designed to revert to a fully functional SMN upon exposure to Cre recombinase. Mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+), and homozygous for the Smn1tm3(SMN2/Smn1)Mrph mutation (SmnRes/Res) are a moderate Type II SMA mouse model with similar phenotype as Stock No. 005025. Those SMN2+/+;SMNΔ7+/+;SmnRes/Res mice exhibi ..... For more information please see the full phenotype on the strain data sheet | ||
| 015838 | STOCK Tg(Camk2a-tTA)1Mmay Tg(tetO-ABL1*P242E*P249E)CPdav/J | Repository- Live |
| The colony of CaMKIIa-tTA::TRE-AblPP double mutant mice, also called AblPP/tTA mice, at The Jackson Laboratory Repository is generated and maintained each generation by breeding TRE-AblPP females (from Stock No. 014544) with CaMKIIa-tTA males (from Stock No. 007004) on a doxycycline (dox) diet. The reciprocal parental cross (CaMKIIa-tTA females x TRE-AblPP males) may be used as well, but smaller litters are reported. The donating investigator reports that breeding TRE-AblPP females with CaMKIIa-tTA males only produces AblPP/tTA double mutant offspring when the breeders are maintained on a dox diet. Additionally, AblPP/tTA double mutant offspring need to be maintained on a dox diet to prevent the neurological phenotype. The donating investigator also reports that the phenotype information below was obtained by taking pups off dox at ~4 weeks of age.
The phenotype ..... | ||
| 016144 | STOCK Tg(Prnp-TARDBP)4Jlel/J | Repository- Live |
| TDP43 transgenic mice express a full length human TAR DNA binding protein (TARDBP or TDP-43) cDNA inserted between exon 2 and exon 3 of the mouse prion protein (Prnp) gene. The transgene in founder line 4 was later found to have integrated on the X chromosome. Hemizygotes are viable and fertile, with mean survival of 109 days. TDP-43 is a ubiquinated protein localized to the nucleus of nerve cells. Accumulations of mutated TDP-43 are involved in the development of Amyotrophic lateral sclerosis (ALS). These mice express human TDP-43 in the spinal cord and skeletal muscle. They exhibit progressive neurodegeneration characterized by bilateral proximal weakness, spasticity, reduced spontaneous movements and progressive weight loss. Variable phenotype penetrance is observed and some animals remain asymptomatic at 6 months of age. These mice contain a nuclear localized, less truncated form of TDP-43 than that observed in TDP-43*A315T mice (Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 017000 | STOCK Tg(SNCA*E46K)3Elan/J | Repository- Live |
| These transgenic mice express the mutant human SNCA, synuclein, alpha (non A4 component of amyloid precursor), with the E46K mutation in exon 3. Mice hemizygous for the transgenic insert are viable, fertile, and normal in size. Transgenic mice accumulate alpha synuclein and develop age-dependent dopaminergic (TH) fiber degeneration. The Donating Investigator recommends avoiding crossing to C57BL/6J because the Nnt deletion may have an effect on phenotype. This allele is also available on a congenic C57BL/6NJ background, which does not carrying the Nnt, see stock number 18768. | ||
| 021193 | B6.129P2-Htttm2Detl/365J | Under Development - Now Accepting Orders |
| These HdhQ365 mice have yet to be fully characterized, but are expected to develop progressive neurological dysfunction by 1 year of age coincident with polyglutamine containing nuclear inclusions mostly in the striatal brain area. Heterozygote X heterozygote crosses fail to yield any homozygous progeny.
This strain is one of a set of different CAG/polyQ repeat length mutants derived from HdhQ150 (STOCK no. 004595 ). The set includes, STOCK numbers: 016521, 016522, 016523, 016524, 016525, 021193. | ||
| 020286 | B6.Cg-Arg2tm1Weo/J | Under Development - Now Accepting Orders |
| ARG2 (arginase type II) protein, found in mitochondria, catalyzes the hydrolysis of arginine to ornithine and urea. It is widely distributed, but most highly expressed in the prostate and kidney.
This strain carries a targeted mutation of Arg2. Homozygous mutant mice exhibit hyperargininemia but are normal with respect to several related amino acids (Cit, Orn, Pro). When treated with streptozotocin to induce diabetes, homozygotes show less stiffening of the carotid artery than wildtype diabetic mice. In a model of retinopathy of prematurity (ROP) that employs Oxygen-Induced Retinopathy (OIR), homozygous mutant mice show reduced neuro-glial injury and improved retinal function. Neuronal survival and function are significantly improved and there's an inhibition of retinal thinning, preservation of rod bipolar cells and prevention of glial activation in retinas.
While homozygous mice are viable and generally fertile, it should be noted that unpublished studies suggest ..... | ||
| 002299 | B6.Cg-Tg(SOD1*G93A)dl1Gur/J | Under Development - Now Accepting Orders |
| Mice carrying the transgene exhibit paralysis resulting in a reduced life expectancy. They serve as a model for human amyotrophic lateral sclerosis (ALS). The transgene carries a variant of the human Superoxide dismutase-1 gene (glycine to alanine at position 93). Paralysis is due to loss of motor neurons from the spinal cord. The onset of the ALS phenotype is delayed compared to the original high copy number strain (SOD1*G93A)1Gur, Stock No. 002726) because of a reduction in transgenic copy number. This reduction most likely occurred during the importation and establishment of the original high copy number mutant transgenic strain. Mice on the B6SJL background (Stock No. 002300) become paralyzed in one or more limbs beginning around six to seven months of age. Life expectancy is normally four to six weeks beyond onset of symptoms. The transgene was backcrossed to C57BL/6J 5 ..... For more information please see the full phenotype on the strain data sheet | ||
| 012265 | B6.Cg-Tg(THY1-SNCA*A30P)TS2Sud/J | Under Development - Now Accepting Orders |
| The A30P mutation in this transgenic strain is associated with the development of familial Parkinson's disease. The onset of hind limb mobility problems occurs around 12 months of age (sometimes earlier), induced by a loss of motor neurons and associated with the formation of insoluble alpha synuclein aggregates. This strain may be useful in studies of Parkinson's disease. Hemizygous mice are viable and fertile. | ||
| 020943 | B6;129S4-Atmtm1Bal/J | Under Development - Now Accepting Orders |
| The ATM protein is a DNA double-strand break sensor protein, delaying cell cycle by activating CHK2 checkpoint homolog or arresting cell cycle/initiate apoptosis by phosphorylating p53. These mice carry a targeted mutation of the Atm gene in which the exon encoding the ATM kinase domain and the adjacent 3' exon is disrupted by a PGK-NEO cassette. Mice that are homozygous for the allele are viable, but exhibit retarded growth, and are infertile due to meiotic failure. Homozygotes develop thymic lymphomas that eventually block the thoracic cavity and die before 4 months of age. Mutant mice have fewer pre-B cells and thymocytes, and lower IgG levels. Although ataxia is not observed, homozygotes develop neurodegeneration in the neocortex (large vacuoles in the cerebellar Purkinje cell layer). Heterozygotes are viable and fertile. | ||
| 016573 | FVB.Cg-Smn1tm1Msd Tg(S100B-EGFP)1Wjt Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb/J | Under Development - Now Accepting Orders |
| Mice that are homozygous for the targeted mutant Smn allele and homozygous for the Tg(SMN2*delta7)4299Ahmb and Tg(SMN2)89Ahmb transgenes exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). At birth, triple mutants are noticeably smaller than normal littermates. By day 5, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait, shakiness in the hind limbs and a tendency to fall over. Mean survival is approximately 13 days. Immunocytochemical analysis indicates that dystrophin expression is normal, however fibers isolated from the gastrocnemius muscle of a 14 day old triple mutant clearly show evidence of atrophy.
These transgenic mice also express Enhanced Green Fluorescent Protein (EGFP) under the direction of the human S100 calcium-binding protein, beta (neural) promoter. Fluorescence is detected in Schwann cells at the neuromuscular ju ..... For more information please see the full phenotype on the strain data sheet | ||
| 019483 | FVB/N-Cers1to/J | Under Development - Now Accepting Orders |
| Lass1 (LAG1 homolog, ceramide synthase 1) is a neuronally expressed enzyme that encodes (dihydro) ceramide synthase (CerS1). Ceramide functions as as a basic structural component of sphingolipids. Alterations in sphingolipid homeostasis are implicated in neurodegenerative disease. Toppler was identified as a C to A missense point mutation in exon 5 of the Lass1 gene. Mice homozygous for the spontaneous toppler mutation are viable and fertile. Beginning at 12-14 days, pups exhibit mild tremors when agitated. Tremors progress to ataxia and loss of balance. Mutant mice adopt a unique tripod stance using the hind limbs and tail as a base, while leaning against cage walls. Homozygotes exhibit reduced body size, a 25-50% decrease in cerebellum size, abnormal accumulation of lipofuscin, loss of Bergmann glia, and, between P21 and P30, a major loss of Purkinje cells. This mutant strain may be useful for studies examining the role of lipid biosynthesis in neurodegenerative disease ..... For more information please see the full phenotype on the strain data sheet | ||
| 017596 | STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#aAhmb/J | Under Development - Now Accepting Orders |
| These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "old" Luci-TRE-SMN mice harbor multiple mutations/transgenes. The moderate Type II SMA mouse model (see Stock No. 005025) is defined by mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homozygous for the Smn1tm1Msd mutation (Smn1-/-), and homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+). At birth, SMN2+/+; Smn1-/-; SMNΔ7+/+ mice are small with neuromuscular defects by 5 days old that progress to abnormal gait, hind limb weakness/immobility, and eventually death at approximately 13 days of age. The ROSA26rtTA targeted mutation results in widespread reverse tetracycline transactivator (rtTA)-expression. The Luci-TRE-SMN transgene has expression of both luciferase and a full-length (exons 1-8) human SMN under the control of a ..... For more information please see the full phenotype on the strain data sheet | ||
| 017916 | STOCK Tg(Prnp-FUS)WT3Cshw/J | Under Development - Now Accepting Orders |
| The PrP-hFUS transgene expresses a hemagglutinin-tagged human wildtype fused in sarcoma cDNA sequence (HA-hFUS) under the direction of the mouse prion protein (PrP) promoter. The exogenous hFUS protein expressed from the PrP-hFUS transgene has a slightly higher molecular weight than endogenous mouse FUS due to eight additional amino acids and the presence of the HA-tag. The phenotype below describes PrP-hFUS mice from founder line WT3 (PrP-hFUS-WT3). As expected for the PrP promoter, PrP-hFUS-WT3 mice have HA-hFUS expression levels highest in the brain (cortex), spinal cord and testis; with much lower expression in other tissues. Transgenic mice express exogenous HA-hFUS, as well as endogenous mouse FUS. Compared to nontransgenic mice, the total FUS expression levels are ~1.4-fold greater in hemizygous mice, and ~1.7-fold greater in homozygous mice. Transgene expression of HA-hFUS results in significantly decreased expression of mouse FUS in all transgenic lines (endogenous FUS is d ..... For more information please see the full phenotype on the strain data sheet | ||
| 006409 | 129S1.129(Cg)-Tg(APPSw)40Btla/Mmjax | Transferred |
| These R1.40 transgenic mice express all mRNA and protein isoforms of the human amyloid beta (A4) precursor protein APP containing the Familial Alzheimer's Disease (FAD) Swedish mutation K670N/M671L. Transgene expression (mRNA and full-length protein) is 2 to 3 fold the wild-type mouse App expression level in the hemizygous state in brain tissue as revealed by RT-PCR and Western Blot analysis. Transgene expression pattern mimics wild-type mouse gene expression patterns.
3 to 4 month old transgenic mice, maintained on a C57BL/6J background, exhibit spontaneous seizure-like events (abnormal spiking) in EEG readings, without abnormal behavior and are more susceptible to kainic acid induced seizures (Vogt et al. Neurobiol Aging 2009).
These R1.40 transgenic mice may be useful in studying the pathogenesis of Familial Alzheimer's Disease and possible therapeutic treatments.
Of note, this is one of two 129S1/SvImJ congenic R1.40 transgenic strains (129S1-R1.40) segr ..... | ||
| 006555 | A.129(B6)-Tg(APPSw)40Btla/Mmjax | Transferred |
| These R1.40 transgenic mice express all mRNA and protein isoforms of the human amyloid beta (A4) precursor protein APP containing the Familial Alzheimer's Disease (FAD) Swedish mutation K670N/M671L. Transgene expression (mRNA and full-length protein) is 2 to 3 fold the endogenous mouse App expression level in the hemizygous state in brain tissue as revealed by RT-PCR and Western Blot analysis. Transgene expression pattern mimics endogenous mouse gene expression patterns. The donating investigator reports increased mortality in young homozygous animals (higher incidence in females). 3 to 4 month old transgenic mice, maintained on a C57BL/6J background, exhibit spontaneous seizure-like events (abnormal spiking) in EEG readings, without abnormal behavior and are more susceptible to kainic acid induced seizures (Vogt et al. Neurobiol Aging 2009). These R1.40 transgenic mice may be useful in studying the pathogenesis of Familial Alzheimer's Disease and possible therapeutic tr ..... For more information please see the full phenotype on the strain data sheet | ||
| 005300 | B6.129-Tg(APPSw)40Btla/Mmjax | Transferred |
| These R1.40 transgenic mice express all mRNA and protein isoforms of the human amyloid beta (A4) precursor protein APP containing the Familial Alzheimer Disease (FAD) Swedish mutation K670N/M671L. Transgene expression (mRNA and full-length protein) is two to three fold the endogenous mouse App expression level in the hemizygous state in brain tissue as revealed by RT-PCR and Western Blot analysis. Transgene expression pattern mimics endogenous mouse gene expression patterns. Levels of the beta- secretase generated human APP derivative, C-terminal 13.5kDA fragment, are elevated in brain tissue. ELISA enzyme-linked immunosorbent assay (ELISA) analysis of brain homogenates show a significant increase in total amyloid-beta peptides and 42 amino acid length amyloid beta peptides. By 14 months of age, homozygous mice develop both parenchymal and vascular amyloid beta deposits, which first appear in the frontal cortex and then spread into the hippocampus. The donating investigat ..... For more information please see the full phenotype on the strain data sheet | ||
| 006406 | B6.129S4-Tg(APPSwLon)96Btla/Mmjax | Transferred |
| Mice hemizygous for this "K670N/M671L + V717I" mutant APP YAC transgene are viable and fertile. RT-PCR analysis shows hemizygous mice express the mutant human APP mRNA at levels similar to endogenous mouse in brain and peripheral tissues. Further, transcript levels of the most common alternative splice variants (encoding human APP-695, -751 and -770) parallel the endogenous mouse gene expression. The levels of total amyloid-beta and longer amyloid-beta peptides (species terminating at amino acids 42/43) are elevated compared to wild-type mice, but not to the extent as observed in a similar strain carrying only the APP (K670N/M671L) mutant transgene (B6.129-Tg(APPSw)40Btla/Mmjax). These mice may be useful in studies of the pathogenesis of Familial Alzheimer's Disease, specifically focusing on the importance of processing at the gamma-secretase site to elevate levels of amyloid-beta 1-42(43). | ||
| 009126 | B6.Cg-Nos2tm1Lau Tg(Thy1-APPSwDutIowa)BWevn/Mmjax | Transferred |
| These APPSwDI/NOS2 bigenic mice harbor the APPSwDI transgene and a targeted "null" mutation of the nitric oxide synthase 2 (Nos2) locus. Expression of the APPSwDI transgene (a neuronally derived human amyloid beta-precursor protein [APP or AβPP] 770 isoform containing three Alzheimer's disease-associated mutations [Swedish K670N/M671L, Dutch E693Q and Iowa D694N] all under the control of the mouse thymus cell antigen 1, theta [Thy1] promoter) produces amyloid-beta (Aβ) peptides that cannot be transported out of the brain across the cerebrovascular interface and results in Aβ peptide accumulation at the blood vessels (see C57BL/6-Tg(Thy1-APPSwDutIowa)BWevn/Mmjax). The Nos2 mutation results in loss of inducible NOS (iNOS) expression which alters physiological functions related to disease and injury (see B6.129P2-Nos2tm1Lau/J). Homozygous bigenic mice (APPSwDI/NOS2-/-) progress from Abeta; production and amyloid depos ..... For more information please see the full phenotype on the strain data sheet | ||
| 005866 | B6.Cg-Tg(APP695)3Dbo Tg(PSEN1dE9)S9Dbo/Mmjax | Transferred |
| Double transgenic mice are viable and fertile. At 6 months of age, double-transgenic mice show visible amyloid plaque deposition but are indistinguishable from nontransgenic animals in all cognitive measures. By 18 months, amyloid deposits were much higher in APPswe/PS1dE9 mice with statistically significant but mild decreases in cholinergic markers (cortex and hippocampus) and somatostatin levels (cortex). Performance of older double-transgenic mice is impaired in all cognitive tasks, and deficits in episodic-like memory tasks correlate with total amyloid-beta peptide loads in the brain. Mutant mice, hemizygous for each transgene, and on the C57BL/6J background (N6), have altered EEG (decreased cortical theta activity and increased beta and gamma activity). EEG differences are detected as early as 7 month of age (Wang et al. Brain Res 2002). | ||
| 008730 | B6.Cg-Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/Mmjax | Transferred |
| Hemizygous mice are viable and fertile. These 5XFAD transgenic mice overexpress both mutant human APP(695) with the Swedish (K670N, M671L), Florida (I716V), and London (V717I) Familial Alzheimer's Disease (FAD) mutations and human PS1 harboring two FAD mutations, M146L and L286V. Expression of both transgenes is regulated by neural-specific elements of the mouse Thy1 promoter to drive overexpression in the brain. Mice from this founder line have high APP expression correlating with high burden and accelerated accumulation of the 42 amino acid species of beta-amyloid (Aβ-42). 5XFAD mice generate Aβ-42 almost exclusively and rapidly accumulate massive cerebral levels. On the B6SJL F1 genetic background (see MMRRC stock 34840), intraneuronal Abeta;-42 accumulation is observed starting at 1.5 months of age, just prior to amyloid deposition and gliosis, which begins at two months of age. On a congenic C57BL/6 ..... For more information please see the full phenotype on the strain data sheet | ||
| 005864 | B6.Cg-Tg(APPswe,PSEN1dE9)85Dbo/Mmjax | Transferred |
| Double transgenic mice express a chimeric mouse/human amyloid precursor protein (Mo/HuAPP695swe) and a mutant human presenilin 1 (PS1-dE9) both directed to CNS neurons. Both mutations are associated with early-onset Alzheimer's disease. The “humanized” Mo/HuAPP695swe transgene allows the mice to secrete a human A-beta peptide. Both the transgenic peptide and holoprotein can be detected by antibodies specific for human sequence within this region (Signet Laboratories' monoclonal 6E10 antibody). The included Swedish mutations (K595N/M596L) elevate the amount of A-beta produced from the transgene by favoring processing through the beta-secretase pathway. This “humanized” Mo/HuAPP695swe protein is immunodetected in whole brain protein homogenates. The transgenic mutant human presenilin protein (PS1-dE9), which in high levels displaces detectable endogenous mouse protein, is also immunodetected in whole brain protein homogenates. The donating investigator reports tra ..... For more information please see the full phenotype on the strain data sheet | ||
| 006293 | B6.Cg-Tg(PDGFB-APPSwInd)20Lms/2Mmjax | Transferred |
| These transgenic mice express a mutant form of the human amyloid protein precursor bearing both the Swedish (K670N/M671L) and the Indiana (V717F) mutations (APPSwInd). Expression of the transgenic insert is directed by the human platelet-derived growth factor beta polypeptide (PDGFB) promoter. Hemizygotes express immunodetectable transgene product in cerebral neurons, with the highest level of expression occurring in the neocortex and hippocampus. Enzyme-linked immunosorbent assay (ELISA) analysis reveals approximate total amyloid beta peptides and 42 amino acid length amyloid beta peptides in neocortical and hippocampal tissue from mutant mice. At five to seven months of age diffuse amyloid beta peptides deposition in the dendate gyrus and neocortex forms. Amyloid deposition is progressive with all transgenic mice exhibiting plaques by age eight to 10 months.
Video-EEG monitoring of 4 to 7 month old hemizygous transgenic mice, N10+ on the C57BL/6J background, reveals ..... For more information please see the full phenotype on the strain data sheet | ||
| 006005 | B6.Cg-Tg(Prnp-App/APPswe)E1-2Dbo/Mmjax | Transferred |
| These transgenic mice express a chimeric mouse/human amyloid precursor protein (APPswe) under the control of the mouse prion protein promoter. Mice that are hemizygous for the transgene are viable and fertile. More than half of the female hemizygous mice do not survive past 15 months of age. This mutant mouse strain may be useful in studies of Alzheimer's Disease. | ||
| 007051 | B6.Cg-Tg(tetO-APPSwInd)102Dbo/Mmjax | Transferred |
| Hemizygotes for this tetO-APPswe/ind transgene are viable and fertile. These transgenic mice express a chimeric mouse/human amyloid precursor protein (APP695) bearing the Swedish (KM570/571NL) and Indiana (V617F) mutations associated with Alzheimer's disease (APP695swe/ind) under the control of a tetracycline-responsive promoter element (TRE; tetO). When hemizygotes are bred with another transgenic mouse expressing either reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA) under the control of a tissue-specific promoter, APP695swe/ind expression in the appropriate tissues of the bitransgenic offspring can be regulated with the tetracycline analog doxycycline (dox). These tetO-APPswe/ind transgenic mice may be useful in studies of Alzheimer's disease and other neurodegenerative diseases. For example, when bred to a strain expressing tTA in brain tissues (Tg(Camk2a-tTA)1Mmay), bi-transgenic offspring show 10-30 fold grea ..... | ||
| 007052 | B6.Cg-Tg(tetO-APPSwInd)107Dbo/Mmjax | Transferred |
| Hemizygotes for this tetO-APPswe/ind transgene are viable and fertile. These transgenic mice express a chimeric mouse/human amyloid precursor protein (APP695) bearing the Swedish (KM570/571NL) and Indiana (V617F) mutations associated with Alzheimer's disease (APP695swe/ind) under the control of a tetracycline-responsive promoter element (TRE; tetO). When hemizygotes are bred with another transgenic mouse expressing either reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA) under the regulation of a tissue-specific promoter, APP695swe/ind expression in the target tissue of the bitransgenic offspring can be regulated with the tetracycline analog doxycycline (dox) in the resulting double mutant offspring.
These tetO-APPswe/ind transgenic mice may be useful in studies of Alzheimer's disease and other neurodegenerative diseases. For example, when bred to a strain expressing tTA in brain tissues (Tg(Camk2a-tTA)1Mmay), bi- ..... | ||
| 007049 | B6.Cg-Tg(tetO-APPSwInd)885Dbo/Mmjax | Transferred |
| Hemizygotes for this tetO-APPswe/ind transgene are viable and fertile. These transgenic mice express a chimeric mouse/human amyloid precursor protein (APP695) bearing the Swedish (KM570/571NL) and Indiana (V617F) mutations associated with Alzheimer's disease (APP695swe/ind) under the control of a tetracycline-responsive promoter element (TRE; tetO). When hemizygotes are bred with another transgenic mouse expressing either reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA) under the regulation of a tissue-specific promoter, APP695swe/ind expression can be regulated in the appropriate tissue of the bitransgenic offspring with the tetracycline analog doxycycline (dox). These tetO-APPswe/ind transgenic mice may be useful in studies of Alzheimer's disease and other neurodegenerative diseases.
For example, when bred to a strain expressing tTA in brain tissues (Tg(Camk2a-tTA)1Mmay), bi-transgenic offspring show 10-30 fold ..... | ||
| 004807 | B6;129-Psen1tm1Mpm Tg(APPSwe,tauP301L)1Lfa/Mmjax | Transferred |
| Mice homozygous for all three mutant alleles (3xTg-AD; homozygous for the Psen1 mutation and homozygous for the co-injected APPSwe and tauP301L transgenes (Tg(APPSwe,tauP301L)1Lfa)) are viable, fertile and display no initial gross physical or behavioral abnormalities. Translation of the overexpressed transgenes appears to be restricted to the central nervous system, notably in Alzheimer's disease-relevant areas including the hippocampus and cerebral cortex. A progressive increase in amyloid beta peptide deposition is observed, with intracellular immunoreactivity being detected in some brain regions as early as 3-4 months. Synaptic transmission and long-term potentiation are demonstrably impaired in mice 6 months of age. Between 12-15 months aggregates of conformationally altered and hyperphosphorylated tau are detected in the hippocampus. This mutant mouse exhibits plaque and tangle pathology associated with synaptic dysfunction, traits similar to those observed in Alzheimer's d ..... For more information please see the full phenotype on the strain data sheet | ||
| 007002 | B6;C3-Tg(Prnp-ITM2B/APP695*42)A12Emcg/Mmjax | Transferred |
| Mice hemizygous for this BRI-Abeta42 transgene are viable and fertile with a normal lifespan and no obvious behavioral abnormalities. Transgenic BRI-Abeta42 mRNA is expressed in a pattern characteristic of the mouse prion protein promoter; highest transgene expression levels are detected in the cerebellar granule cells and hippocampus, followed by the cortex, pons, thalamus, and midbrain. Wildtype BRI protein is cleaved by furin or a furin-like protease near the COOH-terminus which releases a soluble 23 amino acid peptide. In the transgenic fusion protein, Abeta1-42 is fused to the C terminus of the BRI protein at the furin-like cleavage site such that cleavage results in efficient Abeta1-42 secretion into the lumen or extracellular space. Therefore, these mice specifically express the Abeta1-42 isoform in the absence of human amyloid beta protein precursor (APP) overexpression. In contrast to BRI-Abeta40 transgenic mice (Tg(Prnp-ITM2B/APP695*40)1Emcg), hemizygous BRI-Abeta42 mice accu ..... For more information please see the full phenotype on the strain data sheet | ||
| 004462 | B6C3-Tg(APPswe,PSEN1dE9)85Dbo/Mmjax | Transferred |
| Double transgenic mice express a chimeric mouse/human amyloid precursor protein (Mo/HuAPP695swe) and a mutant human presenilin 1 (PS1-dE9) both directed to CNS neurons. Both mutations are associated with early-onset Alzheimer's disease. The "humanized" Mo/HuAPP695swe transgene allows the mice to secrete a human A-beta peptide. Both the transgenic peptide and holoprotein can be detected by antibodies specific for human sequence within this region (Signet Laboratories' monoclonal 6E10 antibody). The included Swedish mutations (K595N/M596L) elevate the amount of A-beta produced from the transgene by favoring processing through the beta-secretase pathway. This "humanized" Mo/HuAPP695swe protein is immunodetected in whole brain protein homogenates. The transgenic mutant human presenilin protein (PS1-dE9), which in high levels displaces detectable endogenous mouse protein, is also immunodetected in whole brain protein homogenates. The donating investigator reports that transgenic mice develo ..... For more information please see the full phenotype on the strain data sheet | ||
| 006004 | B6C3-Tg(tetO-APPSwInd)885Dbo/Mmjax | Transferred |
| Hemizygous mice are viable and fertile. These transgenic mice express a chimeric mouse/human amyloid precursor protein (APP) bearing the Swedish (KM570/571NL) and Indiana (V617F) mutations associated with Alzheimer's disease (APPswe/ind) under the control of a tetracycline-responsive promoter element (TRE; tetO). When hemizygotes are bred with another transgenic mouse expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA) under the regulation of tissue-specific promoters , APPswe/ind transgene expression can be regulated in the appropriate tissue of the bitransgenic offspring with the tetracycline analog, doxycycline. Note that tet alone may affect neuronal degeneration and behavioral phenotypes, depending on the genetic background used (see Han et al, J. Neurosci., 2012).
When bred to a strain expressing rtTA or tTA in brain tissues (B6;CBA-Tg(Camk2a-tTA)1Mmay/J), this mutant mouse strain may be useful i ..... | ||
| 006554 | B6SJL-Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/Mmjax | Transferred |
| Hemizygous mice are viable and fertile. These "5XFAD" transgenic mice overexpress both mutant human APP(695) with the Swedish (K670N, M671L), Florida (I716V), and London (V717I) Familial Alzheimer's Disease (FAD) mutations and human PS1 harboring two FAD mutations, M146L and L286V. Expression of both transgenes is regulated by neural-specific elements of the mouse Thy1 promoter to drive overexpression in the brain. Mice from this founder line have high APP expression correlating with high burden and accelerated accumulation of the 42 amino acid species of beta-amyloid (Abeta-42). 5XFAD mice generate Abeta-42 almost exclusively and rapidly accumulate massive cerebral levels. On the B6SJL F1 genetic background (see MMRRC stock 34840, intraneuronal Abeta-42 accumulation is observed starting at 1.5 months of age, just prior to amyloid deposition and gliosis, which begins at two months of age. On a congenic C57BL/6J ge ..... For more information please see the full phenotype on the strain data sheet | ||
| 003375 | C3B6-Tg(APP695)3Dbo/Mmjax | Transferred |
| These transgenic mice express the human amyloid precursor protein bearing the Swedish (K670N/M671L) mutation and develop amyloid deposits in brain tissue by 18-20 months of age. These mice provide a useful model for studying the underlying mechanism of amyloid deposition, a process implicated in Alzheimer's disease (AD). | ||
| 007027 | C57BL/6-Tg(Thy1-APPSwDutIowa)BWevn/Mmjax | Transferred |
| These transgenic mice express neuronally derived human amyloid beta-precursor protein, APP gene, 770 isoform, containing the Swedish K670N/M671L, Dutch E693Q and Iowa D694N mutations, under the control of the mouse thymus cell antigen 1, theta, Thy1, promoter. Mice hemizygous for the transgenic insert exhibit expression of human amyloid beta precursor protein in the cortex, hippocampus and brain stem with lower expression detected in the cerebellum. At age three months hemizygotes show a progressive accumulation of insoluble amyloid beta 40 and 42 peptides in brain tissue. The levels of accumulation of amyloid beta peptides is 12 to 14 fold higher in brain microvessels than in whole forebrain tissue homogenates. Fibrillar microvascular accumulations of amyloid beta peptides begin at approximately six months of age. Diffuse plaque-like deposits of amyloid beta that are similar to the plaques observed in human patients with the Dutch and Iowa familial disorders are initiall ..... For more information please see the full phenotype on the strain data sheet | ||
| 006472 | D2.129(B6)-Tg(APPSw)40Btla/Mmjax | Transferred |
| These R1.40 transgenic mice express all mRNA and protein isoforms of the human amyloid beta (A4) precursor protein APP containing the Familial Alzheimer's Disease (FAD) Swedish mutation K670N/M671L. Transgene expression (mRNA and full-length protein) is 2 to 3 fold the endogenous mouse App expression level in the hemizygous state in brain tissue as revealed by RT-PCR and Western Blot analysis. Transgene expression pattern mimics endogenous mouse gene expression patterns. The donating investigator reports increased mortality in young homozygous animals (higher incidence in females).
3 to 4 month old transgenic mice, maintained on a C57BL/6J background, exhibit spontaneous seizure-like events (abnormal spiking) in EEG readings, without abnormal behavior and are more susceptible to kainic acid induced seizures (Vogt et al. Neurobiol Aging 2009).
These R1.40 transgenic mice may be useful in studying the pathogenesis of Familial Alzheimer's Disease and possible therapeu ..... For more information please see the full phenotype on the strain data sheet | ||
| 003486 | 129-Cstbtm1Rm/J | Cryopreserved - Ready for recovery |
| The progressive myoclonus epilepsies (PMEs) types are diseases characterized by tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia. Mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in one of these human diseases. Specifically, this mouse is a model of Unverricht-Lundborg disease (EPM1).Strain background has an effect on phenotype. | ||
| 018925 | 129S(B6)-Vps26atm1Cos/J | Cryopreserved - Ready for recovery |
| Exon 2 of the vacuolar protein sorting 26 homolog A (Vps26a) gene was replaced with a neo cassette, abolishing gene function. Vps26a gene product, Hβ58, is expressed in the hippocampal formation as part of a large multimeric complex called the retromer complex. This complex is involved in protein trafficking from endosomes to the trans-Golgi network. Homozygotes display delayed development beginning at E7.5 and embryonic arrest at about E9.5. Heterozygous mice are viable and fertile, and develop hippocampal-dependent memory and synaptic dysfunction associated with elevations concentrations of Aβ peptide. | ||
| 017340 | 129S-Maoatm1Shih/J | Cryopreserved - Ready for recovery |
| These MAO-Aneo mutant mice possess a single loxP site downstream of exon 11, and a loxP-flanked neomycin resistance (neo) cassette downstream of exon 12 of the X-linked monoamine oxidase A (Maoa) gene. Hemizygous males and homozygous females are viable, fertile, and normal in size. MAO-A is a mitochondrial enzyme that oxidizes monoamine neurotransmitters and dietary monoamines. Insertion of the floxed-neo cassette results in a truncation of the C-terminal of MAO-A resulting in expression of a hypomorphic MAO-A transcript in the prefrontal cortex and amygdala. These mice exhibit an increase of pyramidal neuron dendritic length in the orbitofrontal cortex, a reduction in basilar dendritic length, and an increase in apical dendritic length. These mice display reduction in social interaction, reduction in anxiety like behaviors, and reduction in total locomotor activity.
When these mutant mice are bred to mice that express Cre recombinase, re ..... | ||
| 004302 | 129S1/Sv-Hprttm1(cre)Mnn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable and fertile. This is a Cre-deleter induced mutation strain on a 129S1 background. A Cre expression cassette was inserted into the X-linked Hprt gene. When male mice carrying a neomycin selection cassette flanked by loxP sites are mated to female mice heterozygous for this targeted mutation, the cassette is excised without detectable mosaicism, irrespective of cre inheritance. Heterozygous female mice have sufficient Cre recombinase in their oocytes to excise floxed sequence at the zygote or early cleavage stage. | ||
| 014556 | 129S6/SvEv-Apoetm4Mae/J | Cryopreserved - Ready for recovery |
| The Apoetm4Mae mutant allele was created using the same targeting vector used to generate the Apoetm1Unc mutant allele. Both alleles are functionally identical; replacing part of exon 3 and intron 3 with a neomycin resistance cassette and abolishing apoE expression. Mice homozygous for the apoE mutation (apoE-deficient mice) are viable and fertile, with defective lipoprotein metabolism. Compared to wildtype mice, apoE-deficient mice exhibit increased plasma cholesterol and triglyceride levels, along with spontaneous development of atherosclerotic plaques in the aortic root and aortic arch. Several strain-specific differences are reported between apoE-deficient mice coisogenic on a 129S6/SvEv genetic background (129S6-apoE-/-) and apoE-deficient mice congenic on a C57BL/6 genetic background (B6-apoE-/- ; see Stock No. 002052). Compared to B6-apoE-/- mice, 129S6-a ..... For more information please see the full phenotype on the strain data sheet | ||
| 013046 | 129S6/SvEv-Liastm1Mae/J | Cryopreserved - Ready for recovery |
| The Liastm1Mae mutant allele has the exons 4-6 of the of the lipoic acid synthetase (Lias) gene deleted. The deleted region encodes the functionally conserved Cys motifs of the enzyme responsible for converting octanoic acid to α-lipoic acid (also called 1,2-dithiolane-3-pentanoic acid, thioctic acid, ALA, or LA) via insertion of a sulfur atom into the hydrocarbon chain of octanoic acid. Lias mRNA expression in heterozygous mice is approximately half of wildtype levels. Lias homozygous mice die in utero shortly after implantation. When heterozygous dams are fed an exogenous racemic α-lipoic acid diet (equal amounts of left- and right-handed enantiomers of the chiral α-lipoic acid molecule), embryonic lethality of homozygous embryos is not rescued. Heterozygous mice are viable and fertile, with a mild reduction of plasma antioxidant capacity. Inducing stress conditions (such as inflammation, hypercholesterolemia and hyperglycemia) is exp ..... For more information please see the full phenotype on the strain data sheet | ||
| 003906 | AK.B6-Cln8mnd/J | Cryopreserved - Ready for recovery |
| 003602 | B6 x STOCK Cln6nclf-Edardl-3J/J | Cryopreserved - Ready for recovery |
| 004608 | B6(Cg)-Htra2mnd2/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive Htra2mnd2 mutation have a basal ganglia disorder initially described as an early onset motor neuron disease. This is first outwardly evident by 21 to 24 days of age as an unsteady gait with extended hind limbs, repetitive movements and episodes of sudden arrests. This progresses to include severe muscle atrophy, hunched posture, increased imbalance, chorea, dystonia, and progressive akinesis. A failure to gain weight becomes evident shortly after the onset of the other symptoms and by 35 days of age wildtype littermates are twice as heavy as the mutants. Body fat is not detectable at necropsy. Both the spleen and the thymus drop from normal weights at 23 days of age to 10% of normal at 30 days of age and the thymic corticomedullary junction is lost. Death usually occurs within two weeks of disease onset, by 40 days of age. The growth retardation is not the primary cause since disease is not delayed by intragastric feeding. For more information please see the full phenotype on the strain data sheet | ||
| 002246 | B6.129-Apoetm1Unc Ldlrtm1Her/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Apoetm1Unc and Ldlrtm1Hertargeted mutations on a normal chow diet show cholesterol levels corresponding to those seen in the Apoetm1Unc targeted mutant strain. The lipoprotein pattern in homozygous mice also resembles that seen in the Apoetm1Unc targeted mutant strain (VLDL & chylomicron remnants). The double targeted mice have a marked increase in both APOB48 and APOB100. In addition, APOAIV is increased. | ||
| 013733 | B6.129-Asic1tm1Wsh/J | Cryopreserved - Ready for recovery |
| Homozygous Asic1 (amiloride-sensitive cation channel 2, neuronal; also called ASIC1a) targeted mutant mice display alterations in conditioned and unconditioned fear behaviors, eye blink conditioning, long term potentiation, learned helplessness, seizure termination, retinal function, pain perception, and neuronal death in several neurodegnerative disorders. Transcripts and protein are lacking in central and peripheral nervous system tissue. This strain may be useful in studies of synaptic transmission, synaptic plasticity, depression, fear, anxiety, learning and memory. | ||
| 003509 | B6.129-Blmhtm1Geh/J | Cryopreserved - Ready for recovery |
| Bleomycin (BLM) is a clinically used glycopeptide anticancer agent. It is deaminated in vitro by BLMH. Blmh null mice have decreased viability and fertitility. Only about 65% of the expected number survive the neonatal period. Mice lacking Blmh exhibit variably penetrant tail dermatitis that resembles rodent ringtail. This resembles skin lesions in humans with pellagra, necrolytic migratory erythema, and acrodermatitis enteropathica. Null mice also are more sensitive to acute BLM lethality and develop pulmonary fibrosis following BLM treatment. | ||
| 003079 | B6.129-Calb1tm1Mpin/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Calb1tm1Mpin targeted mutation are viable and fertile. Homozygous mutant mice show severe impairment in tests of motor coordination and exhibit ataxia when challenged on a runway. These results suggest functional deficits in cerebellar pathways. Confocal calcium imaging of cerebellar Purkinje cells reveals marked changes of synaptically-evoked postsynaptic calcium transients. | ||
| 007708 | B6.129-Gt(ROSA)26Sortm1(HD*103Q)Xwy/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the RosaHD mutant allele are viable and fertile. These mice have the neuropathogenic polyQ-mutant variant of the human Huntingtin protein (mhtt-exon1; 103Q) inserted into the Gt(ROSA)26Sor locus. Expression of mhtt-exon1 is blocked by an upstream loxP-flanked transcriptional STOP sequence. When bred to mice with a Cre recombinase gene under the control of a promoter of interest, the STOP sequence is deleted in the tissue of interest, and mhtt-exon1 expression is observed. As these RosaHD mutant mice allow cre-conditional expression of the neuropathogenic mhtt-exon1 protein, they may be useful in studying Huntington's disease (HD) or other polyQ disorders. Of note, sequencing of the polyQ region (using mice from the 11th backcross) indicate the actual number of repeats to be 98. For example, when bred to strains expressing cre in brain tissues (such as Nestin-Cre (see Stock No. 003771 ..... | ||
| 003454 | B6.129-Htttm3Mem/J | Cryopreserved - Ready for recovery |
| This strain carries 50 CAG repeat units in the first exon of the endogenous Htt gene. | ||
| 003597 | B6.129-Htttm4Mem/J | Cryopreserved - Ready for recovery |
| This strain carries 92 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of this phenotype is delayed relative to Htttm5 (Stock No. 003456). In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 003598 | B6.129-Htttm5Mem/J | Cryopreserved - Ready for recovery |
| This strain carries 111 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of the phenotype occurs earlier than in Htttm4, (Stock No. 003455). In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 004098 | B6.129-Klc1tm1Gsn/J | Cryopreserved - Ready for recovery |
| The donating investigator indicates that mice that are homozygous for the targeted allele on a C57BL/6 genetic background exhibit significant perinatal mortality (60%). Mortality seems not to be a factor on a mixed B6;129 background. Surviving mice are noticeably smaller than wildtype mice. Mice surviving to adulthood breed poorly, possibly due to less than adequate nurturing capabilities. Minor amounts of a functionless, truncated protein product can be detected. Motor defects are evident, as are alterations in intracellular localization of kinesin-I and COP-I components. | ||
| 013536 | B6.129-Mapk8ip1tm3.1Rjd/J | Cryopreserved - Ready for recovery |
| In this strain, codon 103 in exon 3 of the endogenous mitogen-activated protein kinase 8 interacting protein 1 (Mapk8ip1 or Jip1) gene was mutated from a Threonine (ACT) to an Alanine (GCC). Homozygous mice are viable, fertile, and normal in size. Jip1 is expressed in neurons, the β cells of pancreatic islets, lung, and kidney.
The JIP group of scaffold proteins bind to c-Jun N-terminal kinase (JNK), mitogen-activated protein kinase (MAPK) kinase 7 (MKK7), and to members of the mixed lineage protein kinase (MLK) group, and is required for JNK activation. Phosphorylation of codon 103 is essential for JIP1 to activate JNK, which results in diet-induced obesity and insulin resistance. The loss of JIP1-mediated JNK activation in these JIP1TA mice results in increased insulin sensitivity and fat oxidation when fed a high fat diet (HFD). These mice also exhibit a decrease in hepatic glucose production, accumulation of hepatic lipids and trigly ..... For more information please see the full phenotype on the strain data sheet | ||
| 013538 | B6.129-Mapk9tm1.1Rjd/J | Cryopreserved - Ready for recovery |
| In this strain, codon 108 in exon 6 of the endogenous mitogen-activated protein kinase 9 (Mapk9 or c-Jun N-terminal kinase 2 (Jnk2)) gene was mutated from a Methionine (ATG) to a Glycine (GGG). Homozygous mice are viable, fertile, and normal in size. Jnk2 exhibits widespread expression and is involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. Phosphorylation of JNK2 by other MAPK kinases is required for activation. This mutation in JNK2MG/MG mice expands the size of the ATP pocket of JNK2, increasing sensitivity to inactive small molecule inhibition by PP1, allowing for specific reversible JNK2 inhibition. These mice exhibit a loss of JNK2 signaling while maintaining expression, and show an increase in cellular proliferation, motility, and survival. These mice may be useful for studying MAP kinase signaling pathways, JNK activation ..... For more information please see the full phenotype on the strain data sheet | ||
| 004193 | B6.129-Psen1tm1Mpm/J | Cryopreserved - Ready for recovery |
| The targeted allele (PS1M146VKI) causes a mutation of the mouse Psen1 gene that results in expression of a presenilin-1 protein with the human familial Alzheimer's disease-linked mutation PS1M146V. The neo cassette was deleted from the targeted allele (using a CMV-Cre transgenic line of mice). Published findings indicate that this alteration should not influence the level of expression of mutant PS1. Northern blot analysis and RT-PCR determined mRNA expression of the targeted mutant allele is normal. Homozygous PS1M146VKI mice produce only the mutant gene product. Mice that express this targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Neurodegeneration seen in wild-type mice caused by excitotoxin kainate treatment is increased and accelerated in this mutant strain. Cultured cells expressing the mutant protein exhibit perturbed neuronal calcium homeostasis. This mutant mouse strain represents a model that may b ..... For more information please see the full phenotype on the strain data sheet | ||
| 003615 | B6.129-Psen1tm1Shn/J | Cryopreserved - Ready for recovery |
| Presenilin-1 is the major gene responsible for early-onset familial Alzheimer's disease. Mice that are homozygous null for this gene die within minutes after being born. Externally, mice exhibit shortened tails that curve to the right, thickened necks, loose skin and hind limbs that curve towards the midline. Their weight is 15-20% that of wildtype. Gross skeletal malformations and central nervous system abnormalities are observed. Death presumably results from impaired respiratory mechanics due to ribcage deformities. Histological examination indicates that alveoli are marginally expanded. By embryonic day 9.5, there is a drastic reduction in neural progenitor cells. Later, the brain exhibits hemorrhages and symmetric cerebral cavitation. Cavitation occurs primarily in the ventrolateral region of the ventricular zone in the posterior portion of the brain. | ||
| 008201 | B6.129-Sepp1tm1Rfb/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this targeted mutation are viable and fertile. No RNA or selenoprotein P (Se-P) protein expression from the targeted gene is observed in plasma. Homozygous (Sepp1-deficient) mice are viable with altered selenium metabolism rendering them intolerant of low dietary selenium intake and resulting in significantly shortened life span. Homozygotes have lower brain selenium concentrations and develop progressive neurological dysfunction (impaired movement and coordination); the progression of which is preventable (but not reversible) with dietary selenium supplement. Homozygous females are fertile but have difficulty producing and raising pups. Homozygous males have sharply reduced fertility due to flagellar structural defects ("kinked sperm") which, unlike the neurological phenotype, are not prevented with dietary selenium supplement. Sepp1-deficient mice, supplemented with dietary selenium and infected with an African Trypanosomiasis parasite, exhibit increased ..... For more information please see the full phenotype on the strain data sheet | ||
| 006146 | B6.129-Smn1tm1Jme/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this SMNF7 floxed allele are viable and fertile and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit no transcript splicing defects. Cre-mediated recombination of the loxP-flanked sequences results in deletion of exon 7 of the targeted gene. As mutations of this exon are implicated in 95% of all human spinal muscular atrophy (SMA), these mice may be useful in studying SMA or other neuromuscular degenerative diseases.
When crossed to a strain expressing Cre recombinase in neurons (see Stock No. 005938, Stock No. 006297, and Stock No. 006663), this mutant mouse strain may be useful as a model of SMA. When crossed to a strain expressing Cre recombinase in striated muscle fibers (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 002171 | B6.129P2-Hprtb-m3/J | Cryopreserved - Ready for recovery |
| HPRT-embryonic stem cells were obtained by selecting for spontaneous mutation by incubation in medium containing 6-thioguanine. HPRT-males have no overt phenotype of abnormal behavior. The mutation is due to a large deletion in the Hprt gene. Mutant mice have no HPRT detectable by Western blot analysis and no detectable HPRT enzyme activity in brain homogenates. They appear to have normal brain purine content, but de novo purine synthesis is accelerated four- to fivefold. The Hprtb-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt are activated during early embryonic development. Either administration of amphetamine or inhibition of adenine phosphoribosyltransferase (APRT) activity stimulates locomotor and stereotypic behaviors in HPRT-deficient mice. However, the null mutant for both Hprt and Aprt does not show the characteristics of Lesch-Nyhan disease. | ||
| 004595 | B6.129P2-Htttm2Detl/150J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted allele are viable and fertile. At 15-40 weeks of age mice carrying this allele on a segregating C57BL/6 and 129P2 background exhibit an abnormal gait, clasping behavior and diminished exploratory activity. Infrequent tonic-clonic like seizures may also be observed. Mice with a higher percentage of C57BL/6 in their genetic background develop behavioral and neurological phenotypes at a much later age (70-100 weeks). (Heng MY et al. 2007) Mutant mice may be noticeably smaller than wild-type littermates. Increased glial fibrillary acidic protein immunoreactivity is present in the striatum and ubiquititin- and huntingtin-positive neuronal intranuclear inclusions (NIIs) are detected throughout the dorsal striatum, nucleus accumbens and to a lesser extent other regions of the brain. Onset of symptoms occurs earlier for homozygotes than for heterozygotes.This mutant mouse strain represents a model that may be useful in studies related to Huntington's di ..... For more information please see the full phenotype on the strain data sheet | ||
| 016525 | B6.129P2-Htttm2Detl/315J | Cryopreserved - Ready for recovery |
| HdhQ315 mutant mice exhibit a visibly abnormal phenotype at an earlier age when compared to the HdhQ150 strain (STOCK no. 004595 ), but have yet to be fully characterized. Mutant CAG/polyQ repeat expression is slightly lower than wildtype levels as detected by Western blot analysis and qRTPCR of brain tissue. Mutant mice may be noticeably smaller than wild-type littermates. Mice homozygous for the targeted allele are viable and fertile. Onset of symptoms occurs earlier for homozygotes than for heterozygotes. After 20 weeks of age mutant mice may become infertile. The Donating Investigator reports that homozygotes do not breed well.
This strain is one of a set of different CAG/polyQ repeat length mutants derived from HdhQ150 (STOCK no. 004595 ). The set includes, STOCK numbers: 016521, For more information please see the full phenotype on the strain data sheet | ||
| 008843 | B6.129P2-Sncgtm1Vlb/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this γ-synuclein mutant allele are viable and fertile with no obvious abnormalities in development, behavior, or gross morphology of the nervous system. No RNA or protein expression from the targeted gene is observed. Slight upregulation of β-synuclein is reported in the midbrain of homozygous mice. Homozygous mice are also resistant to the inflammatory/apoptotic Parkinson's disease-like pathology that results following MPTP neurotoxin administration (the active form of which (MPP+) gains entry into dopaminergic cells via the dopamine transporter (DAT)). These γ-synuclein mutant mice may be useful in studying synuclein function in neurodegenerative diseases, such as Parkinson's disease. | ||
| 004322 | B6.129S1-Mapk10tm1Flv/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product, mRNA or protein, is detected in brain tissue. Histological and immunohistological examination of the brains of homozygous mutant mice reveal normal development and cellular organization. Mutant mice are resistant to seizures and neuronal apoptosis caused by administration of excitotoxic glutamate-receptor agonist kainic acid. With higher doses of kainic acid, mutant mice display severe tonic-clonic convulsions, but survive the treatment while wildtype mice have 60% mortality. This mutant mouse strain represents a model that may be useful in studies related to neurotoxicity of excitatory amino acids and induced models of Parkinson's disease and stroke. | ||
| 005301 | B6.129S2-Tg(APP)8.9Btla/J | Cryopreserved - Ready for recovery |
| These transgenic mice express all mRNA and protein isoforms of the wild-type human amyloid beta (A4) precursor protein, APP. The transgene expression level is equivalent to the level of endogenous mouse amyloid beta (A4) precursor protein (in the homozygous state). The expression pattern of the various protein isoforms of human APP mimics endogenous mouse gene expression patterns. These mice serve as a model for dosage imbalance for APP that occurs in Down syndrome and also provide a unique model to examine the regulation of APP isoforms, APP processing and amyloid beta metabolism and regulation. | ||
| 003596 | B6.129S4-Cdk5tm1Kul/J | Cryopreserved - Ready for recovery |
| Cdk5 is an important molecule for brain development and neuronal differentiation. Cdk null mice exhibit unique lesions in the central nervous system associated with perinatal mortality. The brains of mutant mice lack cortical laminar structure and cerebellar foliation. The large neurons in the brain stem and in the spinal cord show chromatolytic changes with accumulation of neurofilament immunoreactivity. They also exhibit neuronal migration abnormalities, cerebellar defoliation, NF accumulation neuronal bodies, and degenerated motor neurons. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 004163 | B6.129S4-Cdk5r1tm1Lht/J | Cryopreserved - Ready for recovery |
| At birth, mice homozygous for this targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Cdk5r protein product is not immunodetectable in homozygote whole-brain lysates. Histological analysis of homozygotes reveals severe defects in the patterning of the cerebral cortex and other areas of the brain. The normal lamination pattern of cortical neurons is disrupted; axonal trajectories and dendritic structures are altered. Homozygous mice are more susceptible to mortality from chemically induced-seizures. Sporadic adult lethality is also observed, presumably resulting from spontaneous seizures, a consequence of the disrupted cytoarchitecture observed in the cortex. This mutant mouse strain represents a model that may be useful in studies related to the mechanisms of cortical lamination, epilepsy, Alzheimer's and other neurodegenerative diseases. | ||
| 002688 | B6.129S4-Htttm1Mem/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Htttm1Mem targeted mutation die very early in embryogenesis (~day 8). | ||
| 005934 | B6.129S4-Ucp2tm1Lowl/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable and fertile and do not express full length mRNA in heart, kidney, spleen, white adipose tissue, and pancreatic islets. In splenic mitochondria, endogenous protein was undetectable. When grown under high glucose conditions, cultured pancreatic islet cells from homozygous mice have increased insulin secretion and ATP levels compared to wildtype. Homozygous mice have 18% lower blood glucose levels. Whether fasting or fed, homozygotes have approximately 3-fold greater serum insulin due to increased insulin secretion. Similarly, glucose-stimulated insulin secretion is significantly increased. High fat diet-fed mice or palmitate-treated islets maintain pancreatic glucose responsiveness in vivo and in vitro compared to wildtype. Mitochondria isolated from the dopaminergic mesencephalic nigral cells of homozygous mice have increased reactive oxygen species but lesser mitochondria number and increased sensitivity to MPTP, mimicking Parkinson's disease. <> ..... For more information please see the full phenotype on the strain data sheet | ||
| 006469 | B6.129S4-Tg(PSEN1H163R)G9Btla/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this "H163R mutant PSEN1 YAC" transgene are viable and fertile, while the donating investigator reports that homozygous mice are non-viable. Semi-quantitative RT-PCR of multiple tissues shows expression of H163R mutant human PSEN1 at levels comparable to that of wildtype mouse PSEN1 (50–70%). In contrast to other PSEN1 transgenic models, tissues from this strain express alternatively spliced human PSEN1 transcripts encoding PSEN1 protein (with or without the tetrapeptide VRSQ) and accumulated an 18-kDa PSEN1 C-terminal fragment as shown by western blots, thus expressing a wide spectrum of different human PSEN1 mRNAs and proteins. When crossed to other FAD transgenic strains (for example Stock No. 005300), this transgene is associated with elevated levels of the 42 amino acid form of amyloid-beta (1–42) in both brain and plasma. These mice may be useful in studying neurological disorders such as Familial Alzheimer’s Disease and Down syndrome. | ||
| 013540 | B6.129S6-Map2k7tm2.1Rjd/J | Cryopreserved - Ready for recovery |
| In this knockout strain, exons 4-7 of the endogenous mitogen-activated protein kinase kinase 7 (Map2k7 or (Mkk7) gene have been eliminated. Heterozygous mice are viable, fertile, and normal in size, while homozygotes die early in embryonic development. Phosphorylation of c-Jun N-terminal kinase (JNK) family members by MKK7 is required for JNK activation. JNK exhibits widespread expression and is involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. These mice lack of MKK7 expression, which in turn leads to a termination of JNK signaling. These mice may be useful for studying MAP kinase signaling pathways, JNK activation and regulation, and cellular growth. | ||
| 013535 | B6.129S6-Mapk8ip1tm1Rjd/J | Cryopreserved - Ready for recovery |
| In this strain, a neomycin resistance cassette replaces exon 3 of the endogenous mitogen-activated protein kinase 8 interacting protein 1 (Mapk8ip1 or Jip1) gene. Homozygous mice are viable, fertile and normal in size. Jip1 is normally expressed in neurons, the β cells of pancreatic islets, lung, and kidney. JIP1 protein also accumulates in the perinuclear region of hippocampal neurons following exposure to stress. The JIP group of scaffold proteins bind to c-Jun N-terminal kinase (JNK), mitogen-activated protein kinase (MAPK) kinase 7 (MKK7), and to members of the mixed lineage protein kinase (MLK) group, and is required for stress induced activation of JNK in hippocampal neurons. The JNK signaling pathways are involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. JIP1 activation of JNK also leads to diet-induced obesity and insulin resistan ..... For more information please see the full phenotype on the strain data sheet | ||
| 013537 | B6.129S6-Mapk8ip3tm1Rjd/J | Cryopreserved - Ready for recovery |
| In this strain, a neomycin resistance cassette replaces exon 1 of the endogenous mitogen-activated protein kinase 8 interacting protein 3 (Mapk8ip3 or Jip3) gene, abolishing gene function. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die shortly after birth due to inability to breathe. Jip3 is both a scaffold protein and an adapter protein for cargo transport on microtubules, and is expressed in neurons. JIP3 binds preferentially to c-Jun N-terminal kinase 3 (JNK3), mitogen-activated protein kinase (MAPK) kinase 7 (MKK7), and to members of the mixed lineage protein kinase (MLK) group. The JNK signaling pathways are involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. Although the brains of homozygotes are smaller when compared to WT littermates, they have similar morphology including the ependymal linings, neu ..... For more information please see the full phenotype on the strain data sheet | ||
| 018439 | B6.129S6-Tg(CAG-Bgeo,-SMN2)E9Dscd/J | Cryopreserved - Ready for recovery |
| These Tg hSMN2 E9 inducible SMN transgenic mice have a loxP-flanked β-geo STOP cassette preventing transcription of a downstream full-length human SMN2 cDNA sequence (exons 1-8). Prior to Cre recombinase exposure, β-galactosidase (lacZ) expression is directed to widespread tissues by the CMV-IE enhancer/chicken β-actin/rabbit β-globin hybrid promoter, and no human SMN2 expression is observed. When bred to mice that express Cre recombinase, the resulting offspring will have the floxed β-geo STOP cassette deleted in the cre-expressing tissues; resulting in expression of full-length human SMN2 in cre-expressing tissues (and continued lacZ expression in other tissues). The donating investigator reports that Tg hSMN2 E9 inducible SMN transgenic mice do not express human SMN2 prior to introduction of Cre recombinase. Mice hemizygous for the inducible SMN transgene are viable and fertile, with no reported phenotypic abnormalities. T ..... For more information please see the full phenotype on the strain data sheet | ||
| 004142 | B6.129S7-Aplp2tm1Dbo/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Aplp2 gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No Aplp2 gene product (mRNA or protein) is detected. This strain may be useful in studies related to Alzheimer's Disease, especially if used in conjunction with other mutant mouse strains (see B6.129S7-Apptm1Dbo, Stock No. 004133). | ||
| 006883 | B6.129S7-Ldlrtm1Her Sod2tm1Leb/J | Cryopreserved - Ready for recovery |
| Independently, mice that are homozygous for this MnSOD mutation (Sod2tm1Leb) allele exhibit postnatal lethality and exhibit anemia, degeneration of neurons in the basal ganglia and brainstem, progressive motor disturbances, and myocardial injury. Individual LDLR homozygous mutants are predisposed to atherosclerosis. When mutant mice are homozygous for both alleles, they die in utero. Mice heterozygous for the Sod2 mutation and homozygous for the LDLR are viable and fertile. The mice may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, and hypercholesterolemia, and oxidative stress. | ||
| 003312 | B6.129S7-Ngftm1Gne/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the disrupted Ngfb gene are born alive, but are smaller, on average, than wild type or heterozygous individuals. They fail to thrive and have a life span of 4 weeks or less, often dying within the first three days of life. Mutant mice are developmentally delayed and exhibit severe cell loss in sympathetic ganglia. They exhibit a more selective cell loss in sensory ganglia, revealing a reduced number of small cells in the dorsal root ganglia (DRG) at 3 days of age, while large cell numbers in the DRG are comparable to wild type mice. Mutant mice also display a decreased responsiveness to pain in comparison to +/+ or +/- littermates. During the first month of life, survival of cholinergic neurons in the basal forebrain does not appear to be affected by absence of NGF, as these cells were observed to differentiate and maintain their phenotype throughout the life span of homozygous mutant mice. Mice heterozygous for the Ngfb gene disruption exhibit normal ..... For more information please see the full phenotype on the strain data sheet | ||
| 012644 | B6.129S7-Pcdhgtm2Xzw/J | Cryopreserved - Ready for recovery |
| These Pcdh-γfcon3 mutant mice possess a loxP site upstream of constant exon 3 of gamma-protocadherin (Pcdh-γ) which was fused to EGFP, followed by a loxP-flanked PGK-neomycin resistance (neo) cassette. Mice that are heterozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have constant exon 3 deleted in cre-expressing tissues, leading to lack of expression of the Pcdh-γ gene cluster. This strain may be useful for studying neuronal structure and function of hypothalamic neuronal circuitry.
For example, when crossed to a strain expressing Cre recombinase in the retina (see Stock No. 005105), this mutant mouse strain may be useful in study of neurons. | ||
| 003881 | B6.129S7-Sod1tm1Leb/DnJ | Cryopreserved - Ready for recovery |
| 009680 | B6.B-Vps54wr/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this spontaneous mutation on the C57BL/6 background are viable, but infertile and die prematurely. The average lifespan is 3 months, although this can be increased if littermates are present in the cage, the Donating Investigator reports. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1. | ||
| 001769 | B6.B10Sn-Sptbn4qv-lnd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (Sptbn4qv-lnd) have dystrophic axons in the low lumbar and sacral spinal cord levels. Although the dystrophic axons are present in both grey and white matter, they predominate in dorso-lateral white matter. Homozygous mutant mice can be identified by 3 weeks of age by a slight tremor of the head and slightly smaller size than normal littermates. They develop progressive wobbly gait, mild head tremor, nervous behavior, and a tendency to drag their hind limbs. Homozygotes develop progressive spastic paresis, demonstrated by a marked resistance to passive flexion at about 5 months of age. | ||
| 002521 | B6.BKS-Ighmbp2nmd-2J/J | Cryopreserved - Ready for recovery |
Motor neuron diseases like amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are typified by the degeneration of alpha motor neurons in the spinal cord that subsequently leads to muscle atrophy. The nature of such neuromuscular disorders appears to be complex but spontaneous mouse mutants are helping to pinpoint critical genetic variables. The mouse neuromuscular degeneration nmd mutant mice express an autosomal recessive neurological disease where motor neurons degenerate causing the skeletal muscle fibers to atrophy. Behaviorally, these mice are easily identifiable by the second postnatal week. The hindlimbs are dorsally contracted and their locomotor activity is impaired, but balance is not adversely affected. They cannot extend their legs to stand erect or assume full posture on all four limbs. Homozygotes clench their hindlimbs when picked up by the tail and they are unable to grasp a cage cover when held against it. They can maintain proper ba ..... | ||
| 002560 | B6.Cg-Aarssti/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this spontaneous mutation exhibit a rough, sticky coat, progressive ataxia and Purkinje cell degeneration. Cerebellar Purkinje cell loss is first observed by three weeks of age becomes extensive by six weeks of age and continues to progress slowly over the course of a year. This mutant mouse strain may be useful in studies related to neurodegeneration, protein misfolding and aberrant transfer RNAs. | ||
| 003605 | B6.Cg-Cln6nclf/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the neuronal ceroid lipofuscinosis mutation (nclf) have a phenotype that is very similar to mice homozygous for the motor neuron degeneration mutation (mnd). Homozygous mutant mice display abnormal proteolipid storage by lysosomes termed neuronal ceroid lipofuscinosis. Mice also develop progressive retinal degeneration at an early age. Affected neuronal lysosomes show abnormal morphology. Severe cerebral gliosis and Wallerian degeneration of long neuronal tracts occur late in the disease and account for the motor neuron abnormalities and eventual paralysis. Homozygotes live to approximately 9 months of age. | ||
| 017800 | B6.Cg-Fig4plt1/MmJ | Cryopreserved - Ready for recovery |
| The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene. FIG4, a lipid phosphatase homolog of the yeast SAC (suppressor of actin), catalyzes removal of a phosphate from PI(3.5)P2, a membrane-bound phospholipid involved in the trafficking and fusion of intracellular vesicles. Mutations in human FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Initially identified by tremors, an abnormal gait, which progresses to a loss of mobility, small size, juvenile lethality and diluted pigmentation, homozygous mice are characterized by spongiform degeneration of the brain and loss of neurons from peripheral ganglia. Neuron loss and accumulation of cytoplasmic vacuoles is observed in layers 4 and 5 of the cortex, deep cerebellar nuclei, and dorsal root ganglia. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3H background homozygotes survive to two weeks; o ..... For more information please see the full phenotype on the strain data sheet | ||
| 009346 | B6.Cg-Lrrk2tm1.1Shn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the LRRK2 R1441C knockin allele (R1441C KI) are viable and fertile. The expression of the R1441C mutant form of leucine-rich repeat kinase 2 (Lrrk2) is associated with Parkinson's disease. Homozygous LRRK2 R1441C KI mice appear grossly normal and exhibit no spontaneous dopaminergic neurodegeneration or alterations in steady-state levels of striatal dopamine up to two years of age. Homozygous mice have significantly impaired dopaminergic transmission and impaired dopamine D2 receptor-mediated function. Specifically, homozygotes show reduced psychostimulant (amphetamine)-induced locomotor activity and reduced sensitivity to D2 receptor agonist (quinpirole)-induced locomotor inhibition. Also, nigral neurons from homozygous acute horizontal midbrain slices exhibit decreased sensitivity to inhibition of firing induced by dopamine, quinpirole, and amphetamine. Chromaffin cells cultured from homozygous mice also show compromised potassium-stimulated exocytotic catec ..... For more information please see the full phenotype on the strain data sheet | ||
| 000566 | B6.Cg-Os +/+ Cacna1atg-la/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the leaner spontaneous mutation (Cacna1atg-la) begin to show ataxia, stiffness, and retarded motor activity by 8 to 10 days of age. Many homozygous mutant mice die by weaning age, but some survive, and females may even breed. Homozygous mutant adults are characterized by instability of the trunk and hypertonia of the trunk and limb muscles. Seizures have not been observed. The cerebellum is reduced in size, particularly in the anterior region. There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Leaner/tottering heterozygotes (Cacna1atg-la/Cacna1atg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days, they develop a wobbly gait and intermittent focal seizures which continue throughout life. The cerebellum shows shrinkage and degenerative changes of the Purkinje cells. | ||
| 005089 | B6.Cg-Qkqk-2J/GrsrJ | Cryopreserved - Ready for recovery |
| Qkqk-2J homozygotes display rapid tremors by approximately 2 weeks of age. Histological examination at 3 weeks of age reveals holes in the striatum of the cortex and cerebellum and in the myelin of the spinal cord. Vision and hearing appear normal. | ||
| 000567 | B6.Cg-T2J +/+ Qkqk-v/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the quaking spontaneous mutation (Qkqk) have marked rapid tremor which disappears when they are at rest but increases during locomotion. The tremor in homozygous mutant mice begins at about 10 days and is fully developed by 3 weeks. Mature mice may have seizures in which a motionless posture is maintained for many seconds. Females are viable and fertile, males are sterile due to defective spermatic differentiation. The entire CNS of quaking mutant mice is severely deficient in myelin and there is a less severe myelin deficiency in the PNS. In this strain the brachyury 2 Jackson mutation (T2J) is maintained in repulsion with the quaking mutation. | ||
| 013110 | B6.Cg-Uchl1gad-2J/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygotes are normal in appearance until 6 or 7 weeks of age when weakness of the hindlimbs begins to present through limb grasping or dragging or splaying of the hindlimbs when walking. A progressive decrease in body weight begins at 12 weeks of age and the hind limb atrophy progresses to paralysis and premature death. Homozygotes are not able to breed. | ||
| 000518 | B6.Cg-Usp14ax-J/J | Cryopreserved - Ready for recovery |
| The first outward sign of homozygosity for the recessive mutation Usp14ax-J is an unsteady gait, particularly in the hind quarters, that can be detected by approximately 2 weeks of age. These pups often show difficulty in righting themselves when turned on their backs. They have a rapid tremor that is most apparent when they are active. Extensor paralysis progresses and wasting of the hind quarters ensues until the hind quarters are not functional and the mouse can not sit upright or move except through the use of onlyits front limbs. Although death is premature, viability in the first two to three weeks is not diminished. At 18 days of age these mutants weigh an average of 15% less than wildtype controls and by 45 days this difference is increased such that they weigh 50-60% less than wildtype controls. Homozygotes do not breed. The lumbar vertebrae are slightly shorter than normal with shorter spinous processes and more elongate foramen. These homozygotes have defec ..... For more information please see the full phenotype on the strain data sheet | ||
| 016882 | B6.Cg-Tg(CMV-CASP3)14Edge/J | Cryopreserved - Ready for recovery |
| Mos-iCsp3 transgenic mice have a CMV promoter directing expression of a floxed-lacZ-STOP cassette followed by two tandem FK506-binding sites (Fvs) and a downstream human Caspase 3 (Casp3) gene. Hemizygous Mos-iCsp3 mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Caspase 3 is a member of the cysteine-aspartic acid protease family of enzymes which are integral to apoptosis pathways. Inactive until cleaved by an initiator enzyme, Caspase 3 is processed at conserved aspartic residues and is activated by the formation of dimers. In this transgenic strain, a STOP cassette is present, flanked by a loxH site and a loxP site, preventing inducible Caspase 3 expression and allowing for widespread lacZ staining. LacZ staining in founder line 14 is seen in the eye, kidney, pancreas, skin, thymus, and portions of the brain. The presence of both a loxH site and a loxP site causes reduc ..... For more information please see the full phenotype on the strain data sheet | ||
| 016908 | B6.Cg-Tg(CMV-CASP3)17Edge/J | Cryopreserved - Ready for recovery |
| Mos-iCsp3 transgenic mice have a CMV promoter directing expression of a floxed-lacZ-STOP cassette followed by two tandem FK506-binding sites (Fvs) and a downstream human Caspase 3 (Casp3) gene. Hemizygous Mos-iCsp3 mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Caspase 3 is a member of the cysteine-aspartic acid protease family of enzymes which are integral to apoptosis pathways. Inactive until cleaved by an initiator enzyme, Caspase 3 is processed at conserved aspartic residues and is activated by the formation of dimers. In this transgenic strain, a STOP cassette is present, flanked by a loxH site and a loxP site, preventing inducible Caspase 3 expression and allowing for widespread lacZ staining. LacZ staining in founder line 17 is seen in the spinal cord, muscle, pancreas, skin, and portions of the brain and skull. The presence of both a loxH site and a loxP site cau ..... For more information please see the full phenotype on the strain data sheet | ||
| 014095 | B6.Cg-Tg(GFAP-Ccl2)JE95Rmra/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the huGFAP-MCP-1 transgene are viable and fertile, with expression of mouse monocyte chemoattractant protein-1 (MCP-1 or Ccl2) directed primarily to astrocytes of the CNS by the human glial fibrillary acidic protein (GFAP) promoter. Transgene-directed mRNA and protein expression is observed in CNS lysates and astrocyte cultures, as well as in peripheral nerve (such as sciatic; because GFAP is expressed by nonmyelinating Schwann cells). Mice derived from the high-expressing founder line 95 (also called huGFAP-MCP-1hi tg+, huGFAP-CCL2hi tg+, or JE-95 mice) overexpress CCL2 in an astroglial activation-dependent manner. Levels of CCL2 expression in the CNS of huGFAP-CCL2hi tg+ mice were comparable with those observed in CNS tissues from mice with experimental autoimmune encephalomyelitis (EAE). With chronic overexpression of CCL2, aged huGFAP-CCL2hi tg+ mice develop D ..... For more information please see the full phenotype on the strain data sheet | ||
| 004662 | B6.Cg-Tg(PDGFB-APP)5Lms/J | Cryopreserved - Ready for recovery |
| These transgenic mice express a wildtype human amyloid protein precursor (APP) under the control of the human platelet-derived growth factor beta polypeptide (PDGFB) promoter. PCR primer modification was used to alter the sequence of the APPInd mutation to the wildtype sequence in this transgene. Hemizygotes express immunodetectable transgene product in cerebral neurons, with the highest level of expression occurring in the neocortex and hippocampus. Enzyme-linked immunosorbent assay (ELISA) analysis of neocortical and hippocampal tissue reveals approximate total amyloid beta peptides levels and 42 amino acid length amyloid beta peptides levels that are lower than levels found in the APP SwInd mutant line. No amyloid plaques are detected by immunohistochemistry at 8-10 months of age or at 24 months of age. Mutants display age dependent decrease in density of synaptophysin-immunoreactive presynaptic terminals indicative of neurodegeneration. This strain serves as the control for Stock N ..... For more information please see the full phenotype on the strain data sheet | ||
| 006006 | B6.Cg-Tg(Prnp-APP)A-2Dbo/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the human amyloid precursor protein (APP) under the control of the mouse prion protein promoter. Mice that are hemizygous for the transgene are viable and fertile. This mutant mouse strain may be useful in studies of Alzheimer's Disease. | ||
| 007180 | B6.Cg-Tg(Prnp-ITM2B/APP695*40)1Emcg/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this BRI-Abeta40 transgene are viable and fertile with a normal lifespan and no obvious behavioral abnormalities. Transgenic BRI-Abeta mRNA is expressed in a pattern characteristic of the mouse prion protein promoter; with highest expression in the cerebellar granule cells and hippocampus, followed by the cortex, pons, thalamus, and midbrain. The BRI-Abeta40 fusion protein takes advantage of the BRI protein that is normally cleaved by furin or a furin-like protease near the COOH-terminus (releasing a soluble 23 amino acid peptide in the wildtype BRI protein). As Abeta1-40 is fused to the C terminus of the BRI protein at the furin cleavage site, cleavage releases Abeta into the lumen or extracellular space, resulting in efficient secretion of Abeta1-40. Therefore, these mice specifically express the Abeta1-40 isoform in the absence of human amyloid beta protein precursor (APP) overexpression. In contrast to the BRI-Abeta42 strain (Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 007182 | B6.Cg-Tg(Prnp-ITM2B/APP695*42)A12Emcg/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this BRI-Abeta42 transgene are viable and fertile with a normal lifespan and no obvious behavioral abnormalities. Transgenic BRI-Abeta42 mRNA is expressed in a pattern characteristic of the mouse prion protein promoter; with highest expression in the cerebellar granule cells and hippocampus, followed by the cortex, pons, thalamus, and midbrain. The BRI-Abeta42 fusion protein takes advantage of the BRI protein that is normally cleaved by furin or a furin-like protease near the COOH-terminus (releasing a soluble 23 amino acid peptide in the wild-type BRI protein). As Abeta1-42 is fused to the C terminus of the BRI protein at the furin-like cleavage site, cleavage releases Abeta into the lumen or extracellular space, resulting in efficient secretion of Abeta1-42. Therefore, these mice specifically express the Abeta1-42 isoform in the absence of human amyloid beta protein precursor (APP) overexpression. In contrast to the BRI-Abeta40 strain (Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 002298 | B6.Cg-Tg(SOD1)2Gur/J | Cryopreserved - Ready for recovery |
| This transgenic strain carries the normal allele of the human SOD1 gene. Originally published as N1029, it expresses the same SOD1 protein level as the transgenic strain carrying the SOD1*G93A transgene (002726), even though the copy number in the SOD1*G93A transgenic is higher. This strain serves as a control for the B6.Cg-Tg(SOD1*G93A)dl1Gur/J mutant strain (Stock No. 002299). | ||
| 008248 | B6.Cg-Tg(SOD1*G85R)148Dwc/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this G85R-SOD1 transgene are viable and fertile, with transgenic expression of a G85R mutant form of human SOD1 associated with human familial Amyotrophic Lateral Sclerosis (ALS). Mice from this founder line (line 148) exhibit unaltered endogenous SOD1 activity; the G85R mutation is characterized as an "enzymatically inactive" mutation. Like wildtype SOD1, the G85R mutant SOD1 protein also forms monomer-misfolded oligomers associated with degenerating motor neurons.
Hemizygotes develop symptoms and pathology resembling human ALS; becoming paralyzed in one or more limbs due to loss of motor neurons from the spinal cord. On the C57BL/6 genetic background, hemizygous mice have a longer lifespan (median lifespan of 361 days). After the first initial phenotype observation, the disease progresses rapidly with death around 12-13 months of age. The onset and progression of motor dysfunction is accompanied by weight loss. For more detailed information, please <> ..... | ||
| 012588 | B6.Cg-Tg(TH-ALPP)1Erav/J | Cryopreserved - Ready for recovery |
| THpPLAP transgenic mice have the rat tyrosine hydroxylase (TH) promoter directing expression of the human Placental Alkaline Phosphatase (ALPP or hPLAP) gene. Homozygous THpPLAP mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. PLAP intensely labels the outer surface of the cell membrane of TH-expressing dopamine (DA) releasing, catecholaminergic amacrines of the retina and the dopaminergic neurons of the brain, including those of the substantia nigra, VTA and olfactory bulb. Furthermore they label, less intensely, the neurons of the locus coeruleus (norepinephrine) and, weakly, the type 2 catecholaminergic amacrines of the retina (transmitter unknown). These mice may be useful for visualizing DA cells, and correlating their physiological properties with their synaptic connections by use of microscopy, electrophysiology, and molecular biology, and for studying the pathophysiology of Parkinson's dis ..... For more information please see the full phenotype on the strain data sheet | ||
| 008859 | B6.Cg-Tg(THY1-SNCA*A53T)F53Sud/J | Cryopreserved - Ready for recovery |
| These mice are transgenic for the A53T mutation of the human SNCA (synuclein, alpha) gene under the control of a human THY1 (thymus cell antigen 1, theta) promoter. Hemizygotes are viable and fertile and develop a Parkinson-like phenotype upon aging. Hind limb paralysis due to loss of motor neurons and a resting tremor are initially seen at about eight months of age. No Lewy body-like pathology is noted. Cell death in the spinal cord (extensive) and brain are observed. Expression of the transgene is 10-fold increased in the brain and 20-fold in the spinal cord.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become availa ..... | ||
| 008135 | B6.Cg-Tg(THY1-SNCA*A53T)M53Sud/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable and fertile and develop a Parkinson-like phenotype upon aging. Hind limb paralysis due to loss of motor neurons and a resting tremor are initially seen at about six months of age. No Lewy body-like pathology is noted. Cell death in the spinal cord (extensive) and brain are observed. | ||
| 012597 | B6.Cg-Tg(Thy1-COL25A1)861Yfu/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the Thy1-COL25A1 allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Collagen XXV alpha 1 (COL25A1), also known as collagen-like Alzheimer's amyloid plaque component precursor, is a type II transmembrane protein expressed in neurons that colocalizes with Amyloid β (Aβ) in senile plaques in the brains of Alzheimer's patients. In the Thy1-COL25A1 mouse, overexpression of human COL25A1 is regulated by a murine Thy1.2 promoter (Thy1), which leads to expression in the cortex and the hippocampus. This overexpression results in accumulation of Aβ and increased levels of p35/p25 and β-site APP-cleaving enzyme 1 (BACE1), which may induce synaptic dysfunction leading to the behavioral changes associated with Alzheimer's Disease. COL25A1 precursor is expressed in cell membranes of cortical neurons, in 2 month old mice. At 6 months, COL25A1 precursor was expressed in t ..... For more information please see the full phenotype on the strain data sheet | ||
| 009337 | B6.FVB-Tg(Prnp-RTN3)2Yanr/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the hRTN3 transgene are viable and fertile, with C-terminally myc-tagged human reticulon 3 (RTN3) expression directed to neurons by the mouse prion protein (PrP or Prnp) promoter. Transgenic mice (Tg-RTN3) from founder line 2 have approximately 1- to 2-fold greater RTN3 than wildtype mice, with highest expression levels in cerebral cortex, slightly less in the hippocampus, and lowest in the cerebellum. Overexpression of RTN3 leads to the development of RTN3 immunoreactive dystrophic neurite aggregation (a distinguishing pathological feature of Alzheimer's disease) with neither amyloid deposition nor paired helical filament tangles. The donating investigator reports that dystrophic neurite aggregation is apparent in the hippocampal CA1 region of Tg-RTN3 line 2 mice by ~12 months. This aggregation results in impaired spatial learning and memory, as well as impaired synaptic plasticity. | ||
| 001612 | B6.KB2-Cln8mnd/MsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the motor neuron degeneration (mnd) spontaneous mutation show onset of disease between 5 and 11 months. Disease characterics include hindlimb weakness and ataxia which progresses to severe spastic paralysis of all limbs, with death usually by 9 to 14 months. Histological examination of the nervous system of affected animals shows sudanophyllic, autofluorescent intraneuronal inclusions characteristic of human neuronal ceroid lipofuscinosis suggesting that mnd mice are models for such human disease as Batten's disease. Performance at 14-16 weeks of age in an associative learning task is significantly decreased relative to controls, thus providing an early disease phenotype for this neuronal ceroid lipofuscinosis model. (Wendt KD, et al., 2005) Males and females are equally affected and both are fertile, although breeding efficiency is reduced. Homozygous mnd mice exhibit a retinopathy characterized by an early and progressive degeneration which ..... | ||
| 003012 | B6.SJL-Slc9a1swe/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem. | ||
| 002878 | B6;129-Apobtm1Sgy Apoetm1Unc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Apobtm1Sgy and Apoetm1Unc targeted mutations do not express the apolipoproteins B100 or E. They do retain the ability to express apolipoprotein B48. They have the highest total cholesterol (392 mg/dl vs 341 for Apobtm1Unc/Apoetm1Unc); highest LDL cholesterol (APOB48 is not a ligand for LDLR), and atherosclerotic lesions more extensive than Apoetm1Unc/Apoetm1Unc homozygotes. The extent of atherosclerosis correlated significantly with plasma cholesterol levels. | ||
| 003536 | B6;129-Cdk5tm1Kul/J | Cryopreserved - Ready for recovery |
| Cdk5 is an important molecule for brain development and neuronal differentiation. Cdk null mice exhibit unique lesions in the central nervous system associated with perinatal mortality. The brains of mutant mice lack cortical laminar structure and cerebellar foliation. The large neurons in the brain stem and in the spinal cord show chromatolytic changes with accumulation of neurofilament immunoreactivity. They also exhibit neuronal migration abnormalities, cerebellar defoliation, NF accumulation neuronal bodies, and degenerated motor neurons. | ||
| 008883 | B6;129-Gt(ROSA)26Sortm1(SNCA*A53T)Djmo/TmdJ | Cryopreserved - Ready for recovery |
| Homozygous ROSA26-Syn-A53T mice are viable and fertile, with the familial Parkinson's disease-associated A53T missense mutant form of human alpha-synuclein (human A53T α-Syn or SYNA53T) inserted into the Gt(ROSA)26Sor (ROSA26) locus. Widespread expression of human A53T α-Syn is blocked by an upstream loxP-flanked STOP sequence (in the absence of Cre recombinase, no human A53T α-Syn protein is observed in brain regions). When bred to cre expressing mice, the STOP sequence is deleted in the tissues of offspring where Cre recombinase is present; resulting in human A53T α-Syn expression. In particular, Stock No. 008601 B6.Cg-Tg(Th-cre)1Tmd/J may be useful for this application. These ROSA26-Syn-A53T mice allow inducible expression of a human mutation associated with familial Parkinson's disease and may be useful for studying the progressive dopaminergic neurodegeneration of Parkinson's dise ..... For more information please see the full phenotype on the strain data sheet | ||
| 008889 | B6;129-Gt(ROSA)26Sortm2(SNCA*119)Djmo/TmdJ | Cryopreserved - Ready for recovery |
| Homozygous ROSA26-Syn119 mice are viable and fertile, with the familial Parkinson's disease-associated Syn119 C-terminal truncation of human alpha-synuclein (human α-Syn119 or SynCT119) inserted into the Gt(ROSA)26Sor (ROSA26) locus. Widespread expression of human α-Syn119 is blocked by an upstream loxP-flanked STOP sequence (in the absence of Cre recombinase, no human α-Syn119 protein is observed in brain regions). When bred to cre expressing mice, the STOP sequence is deleted in the tissues of offspring where Cre recombinase is present; resulting in human α-Syn119 expression. In particular, Stock No. 008601 B6.Cg-Tg(Th-cre)1Tmd/J may be useful for this application. These ROSA26-Syn119 mice allow inducible expression of a human mutation associated with familial Parkinson's disease and may be useful for studying the progressive dopaminergic neurodegeneration of Parkinson's disease and ..... For more information please see the full phenotype on the strain data sheet | ||
| 008886 | B6;129-Gt(ROSA)26Sortm3(SNCA*E46K)Djmo/TmdJ | Cryopreserved - Ready for recovery |
| Homozygous ROSA26-Syn-E46K mice are viable and fertile, with the E46K missense mutant form of human alpha-synuclein (human E46K α-Syn or SYNE46K; associated with familial Parkinson's disease, dementia, and visual hallucinations) inserted into the Gt(ROSA)26Sor (ROSA26) locus. Widespread expression of human E46K α-Syn is blocked by an upstream loxP-flanked STOP sequence (in the absence of Cre recombinase, no human E46K α-Syn protein is observed in brain regions). When bred to cre expressing mice, the STOP sequence is deleted in the tissues of offspring where Cre recombinase is present; resulting in human E46K α-Syn expression. In particular, Stock No. 008601 B6.Cg-Tg(Th-cre)1Tmd/J may be useful for this application. These ROSA26-Syn-E46K mice allow inducible expression of a human mutation associated with familial Parkinson's disease, dementia, and visual hallucinations and may be usefu ..... For more information please see the full phenotype on the strain data sheet | ||
| 003138 | B6;129-Hprttm1Detl/J | Cryopreserved - Ready for recovery |
| Mutant mice develop a phenotype similar to the human translated CAG repeat disorders showing a late onset neurological phenotype. Mice have handling-induced seizures, weight gain, reduced vertical activity, clasping response, impaired performance on the rotarod task, and premature death. Mice subjected to frequent handling have a median age of death of 45 weeks. There is the presence of neuronal intranuclear inclusions containing at least part of the polyglutamine-containing HPRT protein and ubiquitin. These results indicate that expanded CAG repeats need not be located within one of the classic repeat disorder genes to have a neurotoxic effect. Note that the size of the CAG repeat may not be stable and any reduction in repeat size may lead to a later onset phenotype. | ||
| 009347 | B6;129-Lrrk2tm1.1Shn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the LRRK2 R1441C knockin (R1441C KI) allele are viable and fertile, with expression of the R1441C mutant form of leucine-rich repeat kinase 2 (Lrrk2) associated with Parkinson's disease. Homozygous LRRK2 R1441C KI mice appear grossly normal and exhibit no spontaneous dopaminergic neurodegeneration or alterations in steady-state levels of striatal dopamine up to two years of age. Homozygous mice have significantly impaired dopaminergic transmission and impaired dopamine D2 receptor-mediated function. Specifically, homozygotes show reduced psychostimulant (amphetamine)-induced locomotor activity and reduced sensitivity to D2 receptor agonist (quinpirole)-induced locomotor inhibition. Also, nigral neurons from homozygous acute horizontal midbrain slices exhibit decreased sensitivity to inhibition of firing induced by dopamine, quinpirole, and amphetamine. Chromaffin cells cultured from homozygous mice also show compromised potassium-stimulated exocytotic catecho ..... For more information please see the full phenotype on the strain data sheet | ||
| 005048 | B6;129-Rnu2-8nmf291/J | Cryopreserved - Ready for recovery |
| U2 small nuclear RNA (Rnu2-8) is one of five small nuclear RNAs, which comprise the spliceosome machinery and are responsible for the splicing of pre-mRNAs. The ethylmethanesulfonate (EMS)-induced nmf291 allele is a 5 base pair deletion, which results in alternative splicing defects, including the retention of small introns. Mice homozygous for the mutation exhibit mild tremors beginning at 4 weeks of age and progress to truncal ataxia by 12 weeks of age. The ataxia is characterized by splayed hind feet, a lumbering gait and a tendency to intermittently jump into the air. Granule cell degeneration begins at 4 weeks of age and occurs mainly in the cerebellum, but later progresses to the dentate gyrus region of the hippocampus. Mice heterozygous for the mutation develop late onset (2 years) tremors and some granule cell degeneration. Standard pathology work-up on three mutants (84 -138 days of age) revealed severe loss of For more information please see the full phenotype on the strain data sheet | ||
| 007246 | B6;129-Smn1tm2Mrph/J | Cryopreserved - Ready for recovery |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 008678 | B6;129-Ubbtm1Rrk/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the targeted allele are viable and fertile. This polyubiquitin B (Ubb) mutation is characterized by a GFP-puror fusion protein "knock-in" allele that also abolishes endogenous gene function. Direct visualization of GFP fluorescence is observed in ovaries, testes, hypothalamus (arcuate nucleus) and cerebral cortex. Homozygotes have no Ubb mRNA observed in the various tissues tested, and are viable but sterile due to failure of germ cells to progress through meiotic prophase I and hypogonadism. Homozygotes also exhibit a complex metabolic phenotype initially characterized by dysfunction of neurons within the central nervous system accompanied by retarded perinatal growth that progresses to adult-onset obesity linked to selective hypothalamic neurodegeneration. Homozygotes also develop adult-onset hyperleptinemia (but normal levels of circulating glucose and insulin) as a consequence of increased fat content. These Ubb-mutant mice may be useful in studyin ..... For more information please see the full phenotype on the strain data sheet | ||
| 008333 | B6;129P2-Dldtm1Ptl/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the Dld (dihydrolipoamide dehydrogenase or E3 component) targeted mutation are viable and fertile. Heterozygous mice exhibit approximately half of wild-type enzymatic activity levels for E3 and all affected mitochondrial multienzyme complexes. Heterozygotes (on a C57BL/6;129P2 genetic background) exhibit increased vulnerability to treatments with MPTP (dopaminergic neurotoxin used to induce Parkinson's disease-like lesions), malonate (inhibitor of cellular respiration used to mimic Huntington's disease features), and 3-NP (mitochondrial toxin used to mimic Huntington's disease features). Homozygous mice exhibit normal development and metabolism during the preimplantation period, explained by the persistence of E3 enzyme from the oocyte. Homozygotes exhibit developmental delays shortly after implantation (7.5 to 8.5 days postcoitum (dpc)) and cease development within the subsequent two days. These Dld mutant mice may be useful to study early murine em ..... For more information please see the full phenotype on the strain data sheet | ||
| 012850 | B6;129P2-TardbpGt(RRB030)Byg/J | Cryopreserved - Ready for recovery |
| Tardbp+/- mice contain a gene trap targeting vector which inserts a β-geo fusion protein into intron 2 of the endogenous TAR DNA-binding Protein 43 (Tardbp) gene, abolishing gene function. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die between E3.5 and E8.5. lacZ expression in heterozygous embryos at E9.5 is restricted to neuroepithelium and is prominent in all neural progenitors from E10.5-12.5. By E12.5 expression is seen in spinal cord progenitors, in differentiated motor neurons, and in the dorsal root ganglia. Adult Tardbp+/- mice show widespread expression in various regions of the central nervous system. These mice may be useful as a lacZ reporter for Tardbp expression in neurodegenerative disorders. | ||
| 014134 | B6;129S-MaoaK284stop Maobtm1Shih/J | Cryopreserved - Ready for recovery |
| This strain carries two mutant alleles, a knockout of the X-linked monoamine oxidase B (Maob) gene and a spontaneous mutation designated MaoaK284stop in the monoamine oxidase A (Maoa) gene. The two mutations lie 24kb apart. MAO A/B deficient mice are viable, fertile, and normal in size. Maoa and Maob are mitochondrial enzymes which oxidize neurotransmitters and dietary amines. These mutants lack both MAOA and MAOB activity in the brain and liver resulting in increased levels of phenylethylamine, serotonin, dopamine, and norepinephrine. These mice exhibit increased reactivity to stress and increased aggression. These mice may be useful for studying MAOA and MAOB-related behaviors and disorders. | ||
| 014133 | B6;129S-Maobtm1Shih/J | Cryopreserved - Ready for recovery |
| In this strain, a neomycin resistance (neo) cassette replaces exon 6 of the endogenous X-linked monoamine oxidase B (Maob) gene, abolishing gene function. Maob deficient mice are viable, fertile, and normal in size. Maob is a mitochondrial enzyme which oxidizes neurotransmitters and dietary amines. These mutants lack MAOB activity in the brain and liver resulting in increased levels of phenylethylamine. These mice exhibit increased reactivity to stress and increased aggression. These mice also show decreased susceptibility to the neurodegenerative effects of MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine), which induces Parkinson's disease-like symptoms when administered to mice. These mice may be useful for studying neurodegeneration and MAOB-related behaviors. | ||
| 003822 | B6;129S-Psen1tm1Shn/J | Cryopreserved - Ready for recovery |
| Presenilin-1 is the major gene responsible for early-onset familial Alzheimer's disease. Mice that are homozygous null for this gene die within minutes after being born. Externally, mice exhibit shortened tails that curve to the right, thickened necks, loose skin and hind limbs that curve towards the midline. Their weight is 15-20% that of wildtype. Gross skeletal malformations and central nervous system abnormalities are observed. Death presumably results from impaired respiratory mechanics due to ribcage deformities. Histological examination indicates that alveoli are marginally expanded. By embryonic day 9.5, there is a drastic reduction in neural progenitor cells. Later, the brain exhibits hemorrhages and symmetric cerebral cavitation. Cavitation occurs primarily in the ventrolateral region of the ventricular zone in the posterior portion of the brain. | ||
| 012639 | B6;129S4-Mapttm3(HDAC2)Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the HDAC2OE allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Expression of Hdac2 from the microtubule-associated protein tau (Mapt) locus, results in neuron-specific overexpression of Hdac2. This overexpression results in a 2-3 fold expression of Hdac2, increased histone deacetylation, and impaired synaptic plasticity in the hippocampus leading to a negative function in regulating memory formation. This strain may be useful for studying the functional and structural synaptic changes and neuronal adaptive responses implicated in memory formation and storage. | ||
| 008645 | B6;129S7-Pou4f3tm1Xia/J | Cryopreserved - Ready for recovery |
| These mice carry a targeted mutation of the POU domain, class 4, transcription factor 3 gene. Homozygotes are deaf, have impaired balance, and display a robust circling behavior due to defects of the inner ear. Auditory and vestibular hair cells are lost during late embryonic and early postnatal periods. A secondary loss of spiral and vestibular ganglion neurons is also seen. This strain may be useful in studies of auditory and vestibular system development. | ||
| 012705 | B6;CBA-Tg(ATXN3*)84.2Cce/IbezJ | Cryopreserved - Ready for recovery |
| MJD84.2 transgenic mice (also called SCA3-YAC-84Q transgenic mice) are viable and fertile. These mice harbor a YAC transgene that expresses a human ataxin 3 (ATXN3; also called Machado-Joseph disease (MJD), MJD1, or spinocerebellar ataxia 3 (SCA3)) gene modified with an expanded 84 CAG repeat motif that is associated with MJD/SCA3 in humans. Hemizygous mice (MJD84.2) harbor two copies of the transgene at a single genomic integration site, with transgene expression levels and patterns almost identical to endogenous MJD. Transgene expression is widespread (detected in the cerebellum, cerebral cortex, heart, lung, spleen, liver, and skeletal muscle). Stable transmission of the MJD1/CAG84 transgene has been demonstrated for multiple generations with a predicted frequency of about 50%. Hemizygous mice exhibit attenuated weight gain and a progressive neurological phenotype. The neurological phenotype is characterized by prominent gait abnormalities (~ 4 weeks), mild tremor, moderate ..... For more information please see the full phenotype on the strain data sheet | ||
| 005633 | B6;CByJ-Dstdt-38J/J | Cryopreserved - Ready for recovery |
| Complementation tests with Dstdt-J/J (JR# 0211) have shown that NMF403 represents an allele of Dystonin (Dst; i.e. heterozygote matings produced 3 mutants in a total of 10 progeny). In these mutants, hind and front limbs are severely affected: hind limbs are splayed, weak, show intermittent spasms, and appear to be barely usable for walking; although front paws are frequently turned medially, mutants use predominantly their front limbs to move around. NMF403 mice are smaller and more fragile than their littermates and require easy access to food; still they might not reach adult age. On-set of the phenotype is at 2 weeks of age (mean 2.3 weeks of age +/- 0.8; n=6). Standard pathology work-up at 80 days of age did not show any abnormalities. Mutants do not breed, and a colony has to be maintained through ovarian transplants. | ||
| 005463 | B6;CByJ-Scn8a7J/J | Cryopreserved - Ready for recovery |
| In these mutants hind and fore limbs are affected, and the mice show a tottering walk, torso swaying, intense body tremor, and head tossing movements. The hind limbs are pulled closely to the body with impaired movement ability, front limbs show intermittently clonus like movements; when mice are lifted up, hind limbs do not spread apart, and the torso ventroflects backward. This overt phenotype can be observed at 3.7 weeks of age (+/- 1.2 weeks; n=91). Map position and phenotype similarities made NMF335 a candidate for complementation analysis with Scn8a; a mating of heterozygotes (NMF335 by C57BL/6J-Scn8med-jo/J [JR#3799]) resulted in 4 mutants in a total of 8 progeny, confirming that NMF335 represents an allele of Scn8a. Standard pathology work-up was performed on five mutants (20 - 110 days of age). Neurogenic myopathy in the hind limb characterized by areas of very small muscle fibers with degenerating nerve fibers and replacement of muscle by fat ..... For more information please see the full phenotype on the strain data sheet | ||
| 012450 | B6;D2-Tg(tetO-SNCA)1Cai/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the human synuclein (alpha-syn) transgene, (SNCA) are viable and fertile. Expression of the transgene is regulated by the tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a strain expressing tetracycline-controlled transactivator protein (tTA), expression of the SNCA protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. The formation of alpha-syn aggregates is a key step in the pathogenesis of Parkinson's disease. These aggregates cause formation of fibrillar aggregates causing various forms of cytotoxicity, including impairment of proteasomal and lysosomal activities, disruption of ER-Golgi traffic and microtubule-based transport, and dysfunction of mitochondria. SNCA mice develop age-dependent, progressive neurodegeneration. These mice may be useful for studying the Parkinson's disease pathogenesis and n ..... For more information please see the full phenotype on the strain data sheet | ||
| 004360 | B6;SJL-Tg(HD)63Aron/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the initial N-terminal third of the mutant human huntingtin gene (IT15) under the direction of the rat neuron-specific enolase promoter. Expected transgene expression was confirmed by Northern blot, RT-PCR and Western blot analysis. Mice heterozygous for the transgene have a phenotype mimicking much of the morphological and subcellular neuropathology that occurs in the striatum and cortex in human Huntington's disease. Behavioral abnormalities are varible in onset and intensity, beginning between three to six months of age. Transgenic mice exhibit increased levels of nuclear and cytoplasmic huntingtin and dysmorphic dendrites in the striatum and cortex. Electron microscopic analysis of nuclear inclusions of cortical and striatal neurons detects granular and filamentous structures that appear to be similar to structures seen in brain affected by Huntington's disease. Cortical stimulation and N-methyl-D-aspartate (NMDA) receptor activation produces abnormal ..... For more information please see the full phenotype on the strain data sheet | ||
| 008473 | B6;SJL-Tg(THY1-SNCA*A30P)M30Sud/J | Cryopreserved - Ready for recovery |
| The A30P mutation in this transgenic strain is associated with the development of familial Parkinson's disease. The onset of hind limb mobility problems and a resting tremor phenotype occur around 10 months of age due to a loss of motor neurons. No Lewy body-like pathology has been observed. Extensive cell death in the spinal cord and brain are seen. This strain may be useful in studies of Parkinson's disease. Expression of the transgene is 5-fold higher in the brain and 10-fold higher in the spinal cord. Hemizygous mice are viable and fertile, and survive to approximately 14 months of age. | ||
| 008134 | B6;SJL-Tg(THY1-SNCA*A30P)TS2Sud/J | Cryopreserved - Ready for recovery |
| The A30P mutation in this transgenic strain is associated with the development of familial Parkinson's disease. The onset of hind limb mobility problems occurs around 12 months of age (sometimes earlier), induced by a loss of motor neurons and associated with the formation of insoluble alpha synuclein aggregates. This strain may be useful in studies of Parkinson's disease. Hemizygous mice are viable and fertile. | ||
| 003378 | B6C3-Tg(APP695)3Dbo Tg(PSEN1)5Dbo/J | Cryopreserved - Ready for recovery |
| These transgenic mice express human presenilin 1 (A246E variant) and a chimeric amyloid precursor protein (APPSwe). The mouse prion protein promoter directs expression of both transgenes. Elevated levels of the AB1-42(43) peptide is detected in brain homogenates. By nine months of age, histological examination of brain tissue reveals numerous amyloid deposits resembling those observed in the brains of patients with Alzheimer's disease (AD). The number of amyloid deposits increases dramatically between the ages of 10 and 12 months. These mice provide a useful model for studying the underlying mechanism of amyloid deposition, a process implicated in AD. | ||
| 000506 | B6C3Fe a/a-Qkqk-v/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the quaking spontaneous mutation (Qk) have marked rapid tremor which disappears when they are at rest but increases during locomotion. The tremor in homozygous mutant mice begins at about 10 days and is fully developed by 3 weeks. Mature mice may have seizures in which a motionless posture is maintained for many seconds. Females are viable and fertile, males are sterile due to defective spermatic differentiation. The entire CNS of quaking mutant mice is severely deficient in myelin and there is a less severe myelin deficiency in the PNS. | ||
| 001037 | B6C3Fe a/a-Agtpbp1pcd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Purkinje cell degeneration spontaneous mutation (pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photoreceptor cells proc ..... For more information please see the full phenotype on the strain data sheet | ||
| 000246 | B6C3Fe a/a-Pitpnavb/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the vibrator spontaneous mutation (Pitpnvb) are recognizable at 10 to 12 days of age by a fine rapid tremor. This is followed by a degenerative phase in which there is progressive development of ascending motor paralysis and coarse cerebellar tremor, and finally a terminal phase in which there is loss of consciousness and death. Death occurs by 30 days of age in vibrator mutant mice on an inbred genetic background but many derived from outcrosses may live to 6 months. Mammary glands in homozygotes exhibit underdeveloped alveolar and ductal structures and the fat pad is composed predominantly of brown adipose tissue (Monaco et al., 2004). Neutral lipids are increased two to four fold in the livers of homozygotes (Monaco et al., 2004). The expression of phosphatidylinositol transfer protein alpha is decreased 65-85% compared to wildtype littermates (Monaco et al., 2004). | ||
| 008075 | B6CBA(FVB)-Tg(Prnp-TBP*)105Xjl/J | Cryopreserved - Ready for recovery |
| These transgenic mice express a human TATA box binding protein, TBP, containing a 105 polyQ repeat expansion, under the control of the mouse prion protein promoter. The 105 polyQ-expansion is detected by Western blot analysis. At 3 months of age, hemizygous transgenic mice are smaller than wildtype littermates, appear ungroomed, exhibit kyphosis and weight loss. These transgenic mice have a shortened lifespan of 5 months and begin to die as early as 9 weeks of age. Immunohistochemical and Western blot analysis of brain tissue reveals neuronal nuclear aggregates of polyQ tracts by 8 weeks of age. Electron microscopic examination of brain tissue shows nuclear inclusions in cerebellar granule neurons and degeneration of Purkinje cells and axons. Reactive gliosis is observed in the granular and Purkinje layers. Loss of Purkinje cells is observed at 10 weeks of age. Apoptopic neurons in brain cortex and spinal cord are more abundant in transgenic mice when compared to wildtype. Early ..... For more information please see the full phenotype on the strain data sheet | ||
| 008216 | B6CBA(FVB)-Tg(Prnp-TBP*)71-16Xjl/J | Cryopreserved - Ready for recovery |
| These transgenic mice express human TATA box binding protein,TBP, containing a 71 polyQ repeat expansion, under the control of the mouse prion protein promoter. The 71 polyQ-expansion is detected by Western blot analysis. At 6.5 months of age, hemizygous transgenic mice are smaller than wildtype littermates and appear ungroomed. These transgenic mice have a shortened lifespan of approximately 9 months and begin to die as early as 21 weeks of age. Immunohistochemical and Western blot analysis reveals visible nuclear aggregates of polyQ tracts by 15 weeks of age. Electron microscopic examination of brain tissue shows degeneration of Purkinje cells and axons. Reactive gliosis is observed in the granular and Purkinje layers. Onset of progressive locomotor impairment is 7 weeks of age. Some mice exhibit clasping, spontaneous seizures and tremors. The donating investigator has not attempted to make the strain homozygous. This transgenic strain has a less severe phenotype than B6CBA(F ..... For more information please see the full phenotype on the strain data sheet | ||
| 002809 | B6CBA-Tg(HDexon1)61Gpb/1J | Cryopreserved - Ready for recovery |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In both the 61Gpb and 62Gpb founder lines, the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for the 61Gpb line and between nine and 11 weeks for the 62Gpb line. | ||
| 003741 | B6D2-Tg(Prnp-MAPT)43Vle/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the human fetal tau MAPT isoform under the direction of the mouse prion protein promoter. Hyperphosphorylated, insoluble MAPT protein is widely expressed in neurons of the CNS at levels approximately ten-fold higher than the endogenous mouse counterpart. Mice homozygous for the transgenic insert die at about three months of age. In the hemizygous mice intraneural inclusions that stain positive with T14, a monoclonal antibody specific for MAPT, are observed in brain and spinal cord tissue at 1 month of age. The number of inclusions increases until 6-9 months of age. Transmission electron microscopy studies of these inclusions reveals tightly packed aggregates of randomly arranged 10-20 nm straight filaments. Mice suffer progressive, age-dependant neuronal damage, motor weakness and gliosis. These mice recapitulate key features of tauopathies and provide a model for studying the underlying mechanism of related diseases such as FTDP-17, Alzheimer's and ..... For more information please see the full phenotype on the strain data sheet | ||
| 002300 | B6SJL-Tg(SOD1*G93A)dl1Gur/J | Cryopreserved - Ready for recovery |
| Mice carrying the transgene exhibit paralysis resulting in a reduced life expectancy. They serve as a model for human amyotrophic lateral sclerosis (ALS). The transgene carries a variant of the human Superoxide dismutase-1 gene (glycine to alanine at position 93). Paralysis is due to loss of motor neurons from the spinal cord. The onset of the ALS phenotype is delayed compared to the original high copy number strain (SOD1*G93A)1Gur, Stock No. 002726) because of a reduction in transgenic copy number. This reduction most likely occurred during the importation and establishment of the original high copy number mutant transgenic strain. Mice become paralyzed in one or more limbs beginning around six to seven months of age. Life expectancy is normally four to six weeks beyond onset of symptoms. | ||
| 005348 | BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ | Cryopreserved - Ready for recovery |
| The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal. | ||
| 003237 | BALB/cByJ-Agtpbp1pcd-3J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Purkinje cell degeneration 3 Jackson spontaneous mutation (pcd3J) have an external and histological phenotype that is very similar to the original Purkinje cell degeneration mutation (pcd). Homozygous pcd mutant mice show a moderate ataxia beginning at 3 to 4 weeks, are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic ..... For more information please see the full phenotype on the strain data sheet | ||
| 013539 | C.129(B6)-Mapk9tm1.1Rjd/J | Cryopreserved - Ready for recovery |
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In this strain, codon 108 in exon 6 of the endogenous mitogen-activated protein kinase 9 (Mapk9 or c-Jun N-terminal kinase 2 (Jnk2)) gene was mutated from a Methionine (ATG) to a Glycine (GGG). Homozygous mice are viable, fertile, and normal in size. Jnk2 exhibits widespread expression and is involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. Phosphorylation of JNK2 by other MAPK kinases is required for activation. This mutation in JNK2MG/MG mice expands the size of the ATP pocket of JNK2, increasing sensitivity to inactive small molecule inhibition by PP1, allowing for specific reversible JNK2 inhibition. These mice exhibit a loss of JNK2 signaling while maintaining expression, and show an increase in cellular proliferation, motility, and survival. These mice may be useful for studying MAP kinase signaling pathways, JNK activatio ..... For more information please see the full phenotype on the strain data sheet | ||
| 017801 | C3Fe.Cg-Fig4plt1/MmJ | Cryopreserved - Ready for recovery |
| The pale tremor (plt) allele is a spontaneous retrotransposon insertion in the Fig4 gene. FIG4, a lipid phosphatase homolog of the yeast SAC (suppressor of actin), catalyzes removal of a phosphate from PI(3.5)P2, a membrane-bound phospholipid involved in the trafficking and fusion of intracellular vesicles. Mutations in human FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J). Initially identified by tremors, an abnormal gait, which progresses to a loss of mobility, small size, juvenile lethality and diluted pigmentation, homozygous mice are characterized by spongiform degeneration of the brain and loss of neurons from peripheral ganglia. Neuron loss and accumulation of cytoplasmic vacuoles is observed in layers 4 and 5 of the cortex, deep cerebellar nuclei, and dorsal root ganglia. Homozygote survival is dependent on strain background. On the C57BL/6 background, homozygotes are neonatal lethal; on a C3HeB/FeJ background homozygotes survive to two we ..... For more information please see the full phenotype on the strain data sheet | ||
| 003401 | C3H/HeJ-Lpin1fld-2J/J | Cryopreserved - Ready for recovery |
| Homozygous fatty liver dystrophy (fld) mice have an enlarged, fatty liver and hypertriglyceridemia which resolve to normal during the weaning transition. However, decreased overall size, decreased lipid in the fat pads, and a peripheral neuropathy persist throughout the lifespan. This peripheral neuropathy manifests as a tremor and an unsteady gait shortly after 10 days of age and worsens with age. The fld neuropathy is specific to the peripheral nervous system. Electron microscopy of sciatic nerves revealed thin, poorly compacted myelin sheaths, hypertrophic Schwann cells, myelin debris, degenerating axons, bands of Bugner, and regenerative clusters, but no evidence of inflammation (Langner et al, 1991). Western blot analysis of sciatic nerve from two-to-three month old fld/fld mice showed a 7-13-fold reduction in myelin P0, a vast increase in apoE, an increase in GAP-43, and no detectable myelin P2. It was also noted that a ..... For more information please see the full phenotype on the strain data sheet | ||
| 002433 | C3H/HeJ-Sptbn4qv-lnd2J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive Sptbn4qv-lnd2J mutation are identifiable by two weeks of age by their small size relative to their littermates. Their bodies quiver, and their movements are less coordinated than those of littermates. Mutants become progressively wasted and die by four weeks of age. (Cook 1995; Samples 2003) Their phenotype is more severe than that of mice homozygous for the original Spnb4qv-lnd allele, which survive at least 10 months. Sptbn4qv-lnd/Sptbn4qv-lnd mice were found to have dystrophic axons in the lower lumbar and sacral spinal cord. The dystrophic axons were observed in both white and gray matter, but particularly in dorsolateral white matter (Bronson et al. 1992). The acoustic brainstem response ABR) pattern of Sptbn4qv-lnd2J homozygous mice exposed to click stimuli of 80, 70, 60 and 50 decibels exhibited only the first expected peak, indicating the mice have normal ..... For more information please see the full phenotype on the strain data sheet | ||
| 001767 | C3H/HeSnJ-Atp8a2wl-vmd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the vestibulomotor degeneration spontaneous mutation (wlvmd) can be identified at 20 days of age by their small size, shaky behavior, ungroomed coat, and emaciation. Homozygous mutant mice tend to sit hunched with rear feet and limbs tucked in towards the body and exhibit a generalized tremor. When startled, they jump sideways. They clasp their hind feet when picked up by the tail. Most mutants die by 30 days of age, probably from inability to feed and starvation. There is no apparent difference between the wabbler lethal (wl) and vestibulomotor degeneration mutant phenotypes. | ||
| 008393 | C3H;101-Dync1h1Swl/PopJ | Cryopreserved - Ready for recovery |
| Mice heterozygous for the radiation-induced Sprawling mutation of the cytoplasmic dynein heavy chain 1 gene (Dync1h1Swl) are viable and fertile (the donating investigator reports that less than 50% of males breed successfully). Heterozygous mice display an early-onset hereditary proprioceptive sensory neuropathy with muscle spindle deficiency. Mice are distinguishable around one week after birth by the presence of hindlimb flexion during tail suspension, and around three to four weeks of age develop a typical unsteady gait characterized by jerky and wobbly locomotion. At rest, the hindlimbs are splayed and flexed forward and hindpaws are incapable of gripping structures. Defective proprioception is suggested as proprioceptive sensory neurons are severely compromised in the lumbar dorsal root ganglia of newborns and the H reflex is defective despite normal motor nerve function in the hindlimbs. Homozygous mice die in utero before embryonic day (E)8.5, indicating ..... For more information please see the full phenotype on the strain data sheet | ||
| 001886 | C3HeB/FeJLe a/a-gnd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the generalized neuroaxonal dystrophy spontanteous mutation (gnd) have large numbers of dystrophic axons in all white matter funiculi and in central grey matter at all levels of the spinal cord. Dystrophic axons also common throughout the brain stem. In the forebrain, some can be seen in the optic nerves and tracts, corpus callosum, rostral commissure, and fornix. Mutant mice are identifiable between 2 and 3 weeks of age by their small size, dull fur, and nervous behavior. Adults are smaller than littermates and have a humped back and slender torso. They walk with a shaky gait and restricted hip movement. Hindlimbs paralyzed by 8 months of age. They rarely breed. | ||
| 013174 | C57BL/6-Grntm1Aidi/J | Cryopreserved - Ready for recovery |
| These Grn floxed mutant mice possess a single loxP site upstream of the promoter region of the granulin (Grn) gene, and a second loxP site fused to a FRT-flanked neomycin/kanamycin (neo/kan) resistance cassette downstream of exon 4. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 1- 4 deleted in cre-expressing tissues. When bred with mice expressing Cre-recombinase driven by the chicken actin gene promoter (CAG-cre), granulin deficiency is widespread (see Stock No. 013175). These mice exhibit neurodegeneration as seen in human frontotemporal dementia and have an exaggerated inflammation response when exposed to microbial agents. This floxed strain may be used to generate whole mouse or tissue-s ..... For more information please see the full phenotype on the strain data sheet | ||
| 012769 | C57BL/6-Tg(Thy1-Sncg)HvP36Putt/J | Cryopreserved - Ready for recovery |
| Thy1mγSN transgenic mice have the mouse thymus cell antigen 1 (Thy-1) promoter directing expression of the mouse γ-synuclein (Sncg) gene. Homozygous Thy1mγSN mice are viable, fertile, and normal in size. They develop a clasping reflex, abnormal posture and gait, and other symptoms of motor dysfunction around 6 months of age, develop limb paralysis by 9 months of age, and die by 16 months of age. Homozygotes also show a 7-fold increase of γ-synuclein mRNA in neurons compared with wild-type mice, leading to motor neuron impairment and premature death. Hemizygous mice develop this phenotype starting at 12 months of age. γ-synuclein aggregates form fibrils, much like α-synuclein, aggregates of which have been associated with neurodegeneration in diseases such as Parkinson's disease. These mice may be useful for studying the pathophysiology of Parkinson's disease, and other neurodegenerative disorders. | ||
| 005706 | C57BL/6-Tg(tetO-CDK5R1/GFP)337Lht/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable, fertile, normal in size and do not display any behavioral abnormalities. Mice homozygous for this transgene may not be viable. When these transgenic mice are bred with mice expressing the tetracycline-controlled transactivator protein (tTA) under the regulation of a tissue-specific promoter, expression of the CDK5R1/GFP fusion protein in the appropriate tissue of the bitransgenic offspring can be regulated by doxycycline administration. These mice may be useful in studies of Alzheimer's disease and other neurodegenerative tauopathies, amyotrophic lateral sclerosis (ALS), Niemann Pick Type C (NPC) disease, and Parkinson's disease.
Note: this transgenic strain was designed to breed with Tg(Camk2a-tTA) transgenic mice, (Stock No. 003010), a transgenic strain that expresses tTA in forebrain neurons. The resulting bitransgenic offspring exhibit the hallmark phenotype of Alzheimer's disease; ..... | ||
| 005095 | C57BL/6J-Clcn2nmf240/J | Cryopreserved - Ready for recovery |
| Homozygotes exhibit grainy retinas by 3 weeks of age which progresses into large white patches distributed across the entire retina by 12 weeks of age. At 10 days of age the apical processes of the retinal pigment epithelium are abnormally elongated, by 14 days of age the retinal outer nuclear layer is reduced in thickness and contains pyknotic nuclei and the photoreceptor outer segments are disorganized and shortened. Standard pathology work-up on two male mutants (145 or 224 days of age) revealed severe bilateral retinal degeneration.
By 3 weeks of age the photoreceptor layer is reduced to one to two layers of cells and the outer segments are not visible. Both dark and light adapted flash electroretinograms show reduced amplitude responses as early as 14 days of age and this worsens progressively to near zero by 26 days of age.
..... For more information please see the full phenotype on the strain data sheet | ||
| 004829 | C57BL/6J-Dstdt-36J/J | Cryopreserved - Ready for recovery |
| The mutants are small and show splayed hind limbs ('seal-like' gait) by weaning age (mean 3.3 weeks of age +/- 0.6; n=18). The hind limbs are also weak, with intermittent spasms, and the mice move around with great difficulty. Male or female mutants have been produced, though a colony has to be maintained through ovarian transplants. Because of the map position of this mutation, and its phenotypic similarity to dystonia musculorum, complementation tests with dt-J (JR# 0211) have been performed to determine if NMF203 represents an allele of Dst (dystonin). Three heterozygote matings (NMF203 x Dstdt-J) produced 10 mutants in a total of 34 progeny (3 n/n of 11; 3 of 13, 4 of 10), suggesting that NMF203 indeed represents a new allele of Dstdt-J.
Standard pathology work-up on two mutants (22 days of age) showed dystrophic axons in the lumbar spinal cord. Additional staining with For more information please see the full phenotype on the strain data sheet | ||
| 005560 | C57BL/6J-Dstdt-37J/J | Cryopreserved - Ready for recovery |
| The mutants are small and their movement ability is severely limited. They move forward mainly by 'robbing' on their belly, since their front limbs are usually bent at the elbow, and their hind limbs lag behind. No muscle tonus is apparent in either front- or hind limbs upon gently pulling a limb, indicating flaccid paralysis of these limbs. A righting reflex is present only in rudimentary form, i.e. it may take a few seconds before the animal can righten itself from a back-lying position; when picked up by their tail, front- and hind limbs come together, the former are pulled backward, the latter move forward.
Because of phenotypic similarity to dystonia musculorum, complementation tests with Dstdt-J/J (JR# 0211) have been performed to determine if NMF339 represents an allele of Dst (Dystonin). Four heterozygote matings (NMF339 x Dstdt-J/J, n=2; Dstdt-J/J) x NMF339, n=2) produced 8 mutants in a total of 30 progeny, su ..... | ||
| 004817 | C57BL/6J-Npc1nmf164/J | Cryopreserved - Ready for recovery |
| Npc1 is a transmembrane protein involved in endosomal lipid sorting and trafficking. The nmf164 allele is a point mutation, which results in partial functional loss of the protein. In comparison to mice carrying Npc1spm (Stock #002760) and Npc1m1N (Stock #003092), the nmf164 phenotype has a delayed onset and models a more slowly progressing form of human Niemann-Pick C disease. Mice exhibit age-dependent ataxia, impaired motor and strength capabilities, shortened lifespan (112 +/- 4 days), weight loss, progressive accumulation of sphingomyelin and glycosphingolipids in the liver and spleen (sphingomyelinosis), and abnormal cholesterol levels in liver. In the brain, phenotypic characteristics include: loss of cerebellar Purkinje cells, an increase in the GM2 and GM3 gangliosides, abnormal astrocyte and microglial cell activation, abnormal cholesterol levels in neurons, and acoustic startle response abnormalities. This mutant mou ..... For more information please see the full phenotype on the strain data sheet | ||
| 005047 | C57BL/6J-Rorasg-3J/J | Cryopreserved - Ready for recovery |
| The mutants are small and have splayed hind limbs, which can be observed at approximately 3.6 weeks of age (mean 3.7+/-2.2 weeks; n=18). When moving around they have a tendency to lean and eventually fall over to the side, at times sliding for some distance, before they regain a walking position. Complementation analysis with B6.Cg-Rorasg/J (JR#2651) has shown NMF267 to be an allele of Rora (RAR-related orphan receptor alpha), i.e. a heterozygote x heterozygote mating resulted in 2 mutants in a total of 9 progeny. Standard pathology work-up on five mutants (22- 46 days of age) revealed a disorganized Purkinje cell layer and a loss of granule cells . These mutants are fragile, and a colony needs to be maintained through ovarian transplants. | ||
| 004823 | C57BL/6J-nmf205/J | Cryopreserved - Ready for recovery |
| The animals exhibit an unsteady gait, with 'high' hind limbs (walking on hind toes), which can be observed at approximately 4 weeks of age (mean 4.6+/-0.7; n=21, but as early as 3 weeks of age); the impairment progresses over time, i.e. hind limbs become weaker, and the animals show a staggering gait. Because of phenotypic similarities to NMF291, allele tests between NMF205 and NMF291 were performed but did not produce any affected mice.
View video. Standard pathology work-up on four mutants (38 to 51 days of age) revealed loss of cerebellar granule cells in all four animals and cortical laminar necrosis in three animals. The colony is maintained through ovarian transplants.
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| 008245 | C57BL/6J-Tg(Th-SNCA)5Eric/J | Cryopreserved - Ready for recovery |
| These hwα-SYN-5 mice express wildtype human alpha-synuclein (hα-SYN) under the control of the rat tyrosine hydroxylase promoter. Expression of hα-SYN is detected in cell bodies, axons, and terminals of the nigrostriatal system (mRNA expression in midbrain, eye, and adrenal gland, with high levels of protein expression in the cell bodies of dopaminergic neurons in the midbrain and striatum). Hemizygous mice exhibit several Parkinson's disease-related characteristics including increased density of the dopamine transporter, impairments of the ubiquitin-proteasome system, and age-related progressive loss of locomotor activity and substantia nigra pars compacta dopaminergic neurons. The Parkinson's disease-related phenotype of these hwα-SYN-5 mice is intermediate between that of the C57BL/6J wild-type controls and the severely affected hm2α-SYN-39 strain (see Stock No. 008239). As such, these h ..... For more information please see the full phenotype on the strain data sheet | ||
| 002760 | C57BLKS/J-Npc1spm/J | Cryopreserved - Ready for recovery |
| The sphingomyelinosis mutation (Npc1spm) arose in the C57BLKS inbred strain. Homozygous mutant mice begin to lose weight and to show tremor and ataxic gait at about 7 weeks of age. Weight loss continues and tremor and ataxia become more severe until death at about 12 to 14 weeks of age. The liver and spleen are also enlarged and Purkinje cells in the cerebellum are severely depleted. Sphingomyelin and free cholesterol are markedly elevated in liver and spleen but not in brain. Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients. A dual deficiency of sphingomyelinase and glucocerebrosidase activity has been described in BALB/c mice (npc1N) with resemblance to the sphingomyelinosis condition. | ||
| 007578 | CBy.Cg-Tg(HDexon1)61Gpb/J | Cryopreserved - Ready for recovery |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying approximately 100 CAG repeat expansions. In this founder line (61Gpb), the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for this 61Gpb line. On the BALB/cByJ genetic background, the CAG tract remains somatically stable throughout the life span of the mouse but may contr ..... For more information please see the full phenotype on the strain data sheet | ||
| 007074 | CByJ.129S2(B6)-Cd40lgtm1Imx/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation are viable and fertile. Homozygous mutant mice show no overt phenotypic abnormalities. Percentages of B and T cell subpopulations is normal. Homozygotes do show selective deficiencies in humoral immunity (low basal serum isotype levels and undetectable IgE) as well as abnormal secondary antigen-specific responses to immunization with a thymus-dependent antigen. The phenotype of the mice resembles human X-linked hyper IgM syndrome. This mutant mouse strain may be useful in studies of immune system physiology, response to prion infection, neurodegeneration, apoptosis and Immunodeficiency with Hyper-IgM, Type 1.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will mod ..... | ||
| 007067 | D2.129P2(B6)-Apoetm1Unc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Apoetm1Unc mutation show a marked increase in total plasma cholesterol levels that are unaffected by age or sex. Fatty streaks in the proximal aorta are found at 3 months of age. The lesions increase with age and progress to lesions with less lipid but more elongated cells, typical of a more advanced stage of pre-atherosclerotic lesion. Moderately increased triglyceride levels have been reported in mice with this mutation on a mixed C57BL/6 x 129 genetic background. Aged APOE deficient mice (>17 months) have been shown to develop xanthomatous lesions in the brain consisting mostly of crystalline cholesterol clefts, lipid globules, and foam cells. Smaller xanthomas were seen in the choroid plexus and ventral fornix. Recent studies indicate that APOE deficient mice have altered responses to stress, impaired spatial learning and memory, altered long term potentiation, and synaptic damage.
In an attempt to offer alleles on well-charac ..... | ||
| 004518 | DBA/2J-Agtpbp1pcd-5J/GrsrJ | Cryopreserved - Ready for recovery |
| Agtpbp1pcd-5J homozygotes are visibly classified by weaning age and live through adulthood. They present the ataxic gait and severe deficiency of Purkinje cells characteristic of other Agtpbp1 alleles. See initial characteriztaion. | ||
| 008230 | FVB(Cg)-Tg(Thy1-SOD1*G93A)T3Hgrd/J | Cryopreserved - Ready for recovery |
| These Thy1.2-G93A transgenic mice have a human SOD1 cDNA harboring the G93A mutation driven by the murine Thy1.2 expression cassette. Expression of the G93A mutant SOD1 (G93A-SOD1) is directed to neurons throughout the brain and spinal cord (including spinal motor neurons). In addition, mutant SOD1 immunoreactivity is selectively distributed in axons and nerve endings at the neuromuscular junctions. While Thy1.2-G93A hemizygous mice from founder line T3 are viable and fertile with no clinical or pathological signs of motor abnormalities up to two years of age, neuronal expression of mutant SOD1 in homozygous Thy1.2-G93A mice from founder line T3 (also called T3T3 mice) develop an Amyotrophic Lateral Sclerosis (ALS)-like motor neuron disease between one to two years of age, characterized by motor neuron degeneration, muscle denervation, paralysis, and muscle weakness with cytosolic dendritic ubiquitinated SOD1 aggregates as the dominant pathological feature. Additionally, when these T3 ..... For more information please see the full phenotype on the strain data sheet | ||
| 017485 | FVB-Tg(HTT*)1Xwy/J | Cryopreserved - Ready for recovery |
| These BAC SA transgenic mice express a mutant human HTT (huntingtin) gene containing nucleotide substitutions that result in amino acid substitutions of alanine for serine at positions 13 and 16, as well as a loxP-flanked fragment containing 97 mixed CAA-CAG repeats. The amino acid substitutions render the NT17 domain phosphoresistant (SA). Immunoprecipitation analysis confirmed that the mutant HTT protein is not phosphorylated. The mutant protein is expressed at a level higher than levels detected in the BACHD-L transgenic strain (STOCK No. 017487). At 2 months of age, BAC SA transgenic mice exhibit motor deficits, which progress with age. At 12 months of age, the mutant mice display decreased forebrain weight, anxiety and depression-like behavior and progressive protein aggregate formation in cortex and striatum. Mice that are hemizygous for the targeted mutation are viable, fertile and normal in size. The Do ..... For more information please see the full phenotype on the strain data sheet | ||
| 017487 | FVB-Tg(HTT*97Q)LXwy/J | Cryopreserved - Ready for recovery |
| These BACHD-L transgenic mice express a mutant human HTT gene containing 97 mixed CAA-CAG repeats. Mice homozygous for the transgenic insert are viable, fertile, and normal in size. Mutant HTT protein is detected in cortex, striatum, and cerebellum by Western blot analysis. qPCR results indicated that there are tandem integrations of approximately 5 copies of the transgene. The 97 CAA-CAG repeat length is stable in maternal and paternal germline transmission, as well as in brain tissue from 12 month old transgenic mice. Onset of progressive motor deficits is 2 months of age. Transgenic mice weigh 8-14% more than wildtype controls. In transgenic mice 12 months of age, a few mutant HTT protein aggregates are observed in the cortical neuropil, with tiny aggregates in the striatum, which is similar to the pattern seen in adult onset Huntington's Disease. | ||
| 017483 | FVB-Tg(JPH3*)CXwy/J | Cryopreserved - Ready for recovery |
| The autosomal dominant neurodegenerative disorder Huntington's disease-like-2 (HDL2) is caused by a CTG/CAG repeat expansion in exon 2A of the junctophilin 3 (JPH3) gene. A mutant human JPH3 gene containing 116 CTG/CAG repeats in exon 2A is expressed in these mice. Transgene mRNA expression is detected in brain by RT-PCR analysis and is approximately 2 fold greater than endogenous mouse Jph3 expression. Mutant protein levels are not significantly overexpressed. Transgenic mice exhibit progressive motor deficits by 6 months of age. At 3 months of age, no motor deficits are detected. By 12 months of age, transgenic mice have reduced forebrain weight and cortical volume. Ubiquitin-positive nuclear inclusions are detected in transgenic mice as early as 3 months of age in the the cortex and hippocampus. By 12 months of age, nuclear inclusions are detected in a pattern similar to that seen in human patients: upper cortical layers, hippocampus, amygdala, as well as ..... For more information please see the full phenotype on the strain data sheet | ||
| 013732 | FVB-Tg(NPEPPS)1Skar/J | Cryopreserved - Ready for recovery |
| These mice express a human aminopeptidase puromycin sensitive (hPSA or NPEPPS) gene directed by its endogenous promoter/enhancer regions on a BAC transgene. Mice hemizygous for the transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. PSA is a cytosolic aminopeptidase that hydrolyzes N-terminal amino acids. PSA is considered to have neuroprotective qualities due to its ability to degrade certain proteins associated with neurodegenerative diseases (TAU and polyglutamine expansion repeat-containing proteins). hPSA overexpression is seen in the cerebral cortex, spinal cord, cerebellum, hippocampus, and brain stem at a 2-3 fold greater level than endogenous PSA. hPSA activity is also increased in muscle, kidney, and liver. These mice may be useful for studying PSA protection in neurodegenerative disorders. | ||
| 013156 | FVB-Tg(tetO-CDK5R1*)1Vln/J | Cryopreserved - Ready for recovery |
| These tetO-CDK5R1* mice express a truncated human cyclin-dependent kinase 5, regulatory subunit 1 (CDKR1 or p35) cDNA sequence, also referred to as p25, under the control of a tetracycline operator (tetO; also called tetracycline-responsive element (TRE, TetRE) or tet-operator). The N-terminal truncated isoform of p35 is p25. Unlike p35, which is membrane bound in postmitotic neurons in the brain, p25 is non-tethered and expression is seen in all cellular compartments of neuronal somata and dendrites. Mice that are hemizygous for this transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred with another mouse expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA), CDK5R1 expression can be regulated with the tetracycline analog doxycycline (dox) in the resulting double mutant offspring. For example, when bred to a strain expressing ..... For more information please see the full phenotype on the strain data sheet | ||
| 006138 | FVB.129(B6)-Smn1tm1Jme/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this SMNF7 floxed allele are viable and fertile and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit no transcript splicing defects. Cre-mediated recombination of the loxP-flanked sequences results in deletion of exon 7 of the targeted gene. As mutations of this exon are implicated in 95% of all human spinal muscular atrophy (SMA), these mice may be useful in studying SMA or other neuromuscular degenerative diseases.
When crossed to a strain expressing Cre recombinase in neurons (ssee Stock No. 005938, Stock No. 006297, and Stock No. 006663), this mutant mouse strain may be useful as a model of SMA. When crossed to a strain expressing Cre recombinase in striated muscle fibers (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 008660 | FVB.129S2(B6)-Hmox2tm1Poss/J | Cryopreserved - Ready for recovery |
| Homozygotes have reduced total heme oxygenase activity in brain and testes, diminished inflammatory pain response and are more susceptible to hyperoxia with attenuated hypoxic ventilatory response. Cultured neurons from homozygotes exhibit increased neurotoxicity and cell death. Neuronal and endothelial cell damage due to transient focal ischemia and glutamate induced cytotoxicity is increased. Olfactory epithelial neurons have decreased proliferation of neuronal precursors and increased apoptosis. Mutant pulmonary venous myocardium is hypertrophic. After hyperoxic exposure, total lung iron content increased 3.5 fold in homozygotes compared to wild-type. Homozygotes have a slower overall gastrointestinal transit time than wild-type. Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. Although homozygous male animals exhibit ejaculatory abnormalities, both male and female homozygotes are fertile ..... For more information please see the full phenotype on the strain data sheet | ||
| 008209 | FVB.Cg-Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet | ||
| 008206 | FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and single copy human SMN2 low copy line 89 exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. In contrast to that SMA model, this strain carries the high copy SMN2 (founder line 566) transgene instead of the single copy SMN2 (line 89) transgene. As a result of the high SMN2 copy number, mice homozygous for the Smn1tm1Msd targeted mutation and high copy SMN2 line 566 (16 copies when homozygous) are rescued from all overt features of the severe SMA phenotype. Homozygous Smn; SMN2 high copy line 566 mice have a shorter and thicker tail. These Smn; SMN2 high copy line 566 mutant mice may be useful in neuromuscular studies including spinal muscular atrophy (SMA). | ||
| 006139 | FVB.Cg-Tg(ACTA1-cre)79Jme/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this HSA-Cre79 transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These HSA-Cre79 transgenic mice have the cre recombinase gene driven by the human alpha-skeletal actin (HSA or ACTA1) promoter. Cre activity is restricted to adult striated muscle fibers and embryonic striated muscle cells of the somites and heart. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in striated muscle-specific deletion of the flanked genome. Specifically, these HSA-Cre79 (or ACTA1-Cre) transgenic mice were originally used to breed with mice heterozygous for a deletion of exon 7 and a loxP-flanked exon 7 mutation on homologous chromosomes of the Smn1 gene (see Stock No. 006138 or Stock No. 006146). The resulting offspring ( ..... For more information please see the full phenotype on the strain data sheet | ||
| 003753 | FVB/N-Tg(Eno2CDK5R1)1Jdm/J | Cryopreserved - Ready for recovery |
| These transgenic animals display a robust expression of the amino terminal proteolytic fragment p25 of human CDK5R1. Expression is detected in the amygdala, thalamus/hypothalamus, cerebral cortex, and cerebellum. The p25 fragment acts as a positive allosteric regulator of cyclin-dependent kinase 5 (Cdk5), a kinase known to phosphorylate the microtubule-binding protein tau. A two-fold increase in the catalytic activity of Cdk5 is observed in these mice. In contrast to wildtype control mice, brains from 4-month-old exhibit the presence of tau and neurofilament phosphoepitopes. Utlrastructurally, axonal swelling in neurons from the amygdala and spinal cord is observed. Affected neurons possess numerous, abnormally clustered mitochondria and lysosomes, with some evidence of cytoskeletal disorganization. Mice exhibit whole-body tremors at 4-9 weeks of age and enhanced open-field locomotor activity. Aspects of this phenotype are similar to Alzheimer's, Pick's and other n ..... For more information please see the full phenotype on the strain data sheet | ||
| 012630 | FVB/N-Tg(GFAP-HTT*160Q)31Xjl/J | Cryopreserved - Ready for recovery |
| HTT-160Q-31 transgenic mice have the human glial fibrillary acidic protein (GFAP) promoter directing expression of the human huntingtin (HTT) gene in astrocytes, a glial cell that removes extracellular glutamate in the brain. Hemizygous GFAP-HD mice are viable and fertile. HTT-160Q-31 mice exhibit weight loss, deficient motor function, and die earlier than control mice. HTT-160Q-31 binds with Sp1 transcription factor decreasing the expression of glutamate transporter in astrocytes by reducing the association of Sp1 with the glutamate transporter promoter. This leads to a decrease in extracellular glutamate uptake by glial cells and may cause the glutamate excitotoxicity associated with Huntington's disease. These mice may be useful for studying the pathology and neurodegeneration associated with glutamate excitotoxicity in Huntington's disease. | ||
| 007247 | FVB/N-Tg(YAC353G6)W7Hay/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the human huntingtin protein containing a 133 CAG repeat expansion and a mutation in exon 13 conferring resistance to caspase-6 cleavage to the gene product.
Expected caspase-6 cleaved fragments are not detected in brain lysates by Western blot analysis. Transgenic mice have brain weight and striatal volume similar to wild-type controls and do not exhibit neuronal loss at 12 months of age when compared to transgenic mice that express human huntingtin protein containing a 128 CAG repeat (FVB-Tg(YAC128)53Hay/J Stock No. 004938). These transgenic mice have activity levels and motor function similar to wild-type controls, and are resistant to neuron excitotoxicity. Immunohistochemical analysis of striatal brain sections reveals delayed nuclear localization of mutant huntingtin protein in these transgenic mice at nine months of age. Between nine and 12 months of age, an increase of nuclear huntingtin i ..... | ||
| 003640 | FVB/NJ-Tg(YAC72)2511Hay/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this transgene are viable and fertile. The human huntingtin transgenic protein is expressed widely in many tissues (identical to the endogenous huntingtin protein), but has highest levels of expression in the brain and testes. Electrophysiological abnormalities can be measured by six months. A behavioral phenotype is first detected at seven months when evidence of mild hyperkinetic movement disorder is noticeable. This disorder is characterized by progressive spontaneous hyperactivity during the dark phase of open field-testing. By 12 months of age selective degeneration of medium spiny neurons in the lateral striatum is observed. This degeneration is associated with the translocation of N-terminal huntingtin fragments to the nucleus. This strain represents a Huntington's Disease mouse model where a mutant full-length human huntingtin is expressed under control of its endogenous promoter. | ||
| 003011 | SJL/J-Slc9a1swe/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem. | ||
| 008607 | STOCK Aspanur7/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this ENU-induced mutation, the neurological 7 (nur7) allele of Aspa (Aspanur7), are viable and fertile, although the donating investigator reports homozygotes are poor breeders. The Aspanur7 mutation encodes a Q193X transition that generates a nonsense codon and results in a predicted 120 amino acid truncation of the protein. While mutant Aspa mRNA expression is reduced by 40% (compared to wildtype), no truncated Aspa protein expression is reported in homozygous oligodendrocytes or brain tissue. Homozygous mice display early-onset spongy degeneration of central nervous system myelin with increased NAA levels similar to that observed in Canavan disease; an Aspa-deficiency-induced fatal childhood autosomal recessive leukodystrophy. Homozygous mice are easily distinguished at 21 days of age by their small body size and a wide-based ataxic gait. Neurological disease progresses with age to tremors and seizures. These Aspa For more information please see the full phenotype on the strain data sheet | ||
| 004685 | STOCK Cln3tm1.1Mem/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable and fertile, but have reduced survival, which drops to 80% by 12 months of age. Northern blot and RT PCR analyses of kidney, liver and brain tissue from homozygotes detect mutant mRNA. Truncated polypeptide and non-truncated alternatively spliced gene products are present. This 1.02kb deletion mutation replicates the most common mutation (>80%) found in Juvenile-onset neuronal ceroid lipofuscinosis (JNCL) patients. Autofluorescent lysosomal material containing immunoreactive ATPase subunit c are found in all tissues. Neuron and hepatocyte membrane deposits begin to accumulate as early as E19.5. Electron microscopic analysis reveals inclusions characteristic of JNCL tissue. Hypopigmented homozygotes exhibit retinal degeneration beginning at 10 months of age. Gliosis in the CNS and abnormal clasping behavior and gait traces indicate neurodegeneration. Onset and severity of disease phenotype is variable, which might be due t ..... For more information please see the full phenotype on the strain data sheet | ||
| 017597 | STOCK Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb Tg(tetO-SMN2,-luc)#bAhmb/J | Cryopreserved - Ready for recovery |
| These Tg(SMN2)89; Smn1+/-; Tg(SMNΔ7)4299; ROSA26rtTA; "new" Luci-TRE-SMN(B) mice harbor multiple mutations/transgenes. The moderate Type II SMA mouse model (see Stock No. 005025) is defined by mice homozygous for the Tg(SMN2)89 transgene (SMN2+/+), homozygous for the Smn1tm1Msd mutation (Smn1-/-), and homozygous for the Tg(SMNΔ7)4299 transgene (SMNΔ7+/+). At birth, SMN2+/+; Smn1-/-; SMNΔ7+/+ mice are small with neuromuscular defects by 5 days old that progress to abnormal gait, hind limb weakness/immobility, and eventually death at approximately 13 days of age. The ROSA26rtTA targeted mutation results in widespread reverse tetracycline transactivator (rtTA)-expression. The Luci-TRE-SMN transgene has expression of both luciferase and a full-length (exons 1-8) human SMN under the control of ..... For more information please see the full phenotype on the strain data sheet | ||
| 007749 | STOCK Hap1tm1Xjl/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this Huntingtin Associated Protein (HAP1)-deficient allele have neurodegeneration in areas of the hypothalamus that control feeding behavior, resulting in decreased feeding behavior, dehydration, hypoactivity, and death between two and 15 days after birth. No protein expression from the targeted gene is observed in brain tissue from homozygous mice. Hypothalamus tissue from HAP1-deficient homozygotes exhibit reduced levels of gamma-aminobutyric acid-A (GABAA; a neurotransmitter associated with feeding) and tropomyosin-related kinase A receptor tyrosine kinase (TrkA; a nerve growth factor receptor associated with neurite outgrowth). Heterozygous mice are viable and fertile with no abnormalities in HAP1 expression levels, life span, behavior, and body weight. These huntingtin-associated protein-1 (HAP1) mutant mice may be useful in studying the hypothalamic neurodegeneration and loss of body weight in Huntingon's disease (HD), neurotransmitters, microtubule ..... For more information please see the full phenotype on the strain data sheet | ||
| 012640 | STOCK Hdac2tm1.2Rdp/J | Cryopreserved - Ready for recovery |
| These HDAC2KO mutant mice lack exons 5-6 of the mouse histone deacetylase 2 (Hdac2) gene. Mice that are homozygous for this allele are viable, fertile, although the donating investigator reports that homozygous mice are born at a twofold lower frequency than expected from a normal Mendelian ratio. These mice have an increased synapse number and enhanced memory formation. This strain may be useful for studying the functional and structural synaptic changes and neuronal adaptive responses implicated in memory formation and storage. | ||
| 003453 | STOCK Htttm2Mem/J | Cryopreserved - Ready for recovery |
| Mice with the Htttm2Mem targeted mutation display no overt phenotype. This strain carries 20 CAG repeat units in the first exon of the endogenous Hdh gene. This strain is a control for Stock No's. 003455 and 003456). | ||
| 003455 | STOCK Htttm4Mem/J | Cryopreserved - Ready for recovery |
| This strain carries 92 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of this phenotype is delayed relative to Htttm5 (Stock No. 003456). | ||
| 003456 | STOCK Htttm5Mem/J | Cryopreserved - Ready for recovery |
| This strain carries 111 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of the phenotype occurs earlier than in Htttm4, (Stock No. 003455). | ||
| 008203 | STOCK Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet | ||
| 006570 | STOCK Smn1tm1Msd Tg(Hlxb9-GFP)1Tmj Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
Similar to Stock No. 005024, mice that are homozygous for the targeted mutant Smn1 allele and carry the SMN2 transgene exhibit symptoms and neuropathology similar to patients afflicted with type I proximal spinal muscular atrophy (SMA). As an addition to Stock No. 005024, this line carries a transgene containing a Green Fluorescent Protein (GFP) under the direction of the mouse Hlxb9 promoter. Transgenic mice display distinct expression of GFP in dendrites, axons and soma of spinal motor neurons, allowing identification, isolation and purification of spinal motor neurons by FACS. GFP expression mimics endogenous HLXB9 expression pattern. Fluorescence is detected in axons, dendrites and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice. This mutant mouse strain represents a model that may be useful for pu ..... | ||
| 006553 | STOCK Smn1tm1Msd Tg(H2-K1-tsA58)6Kio Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| This mutant mouse harbors a single targeted mutation and three transgenic alleles. The Smn1tm1Msd targeted mutation eliminates endogenous expression of the targeted gene. The Tg(SMN2*delta7)4299Ahmb transgene consists of a SMA cDNA lacking exon 7, whereas the Tg(SMN2)89Ahmb transgene consists of the entire human SMN2 gene. The Immortomouse transgene (from H-2Kb-tsA58 transgenic founder line 6 (H2ts6)) allows interferon-inducible expression of a thermolabile large tumor antigen (TAg) (and the small tumor antigen) from the SV40 thermosensitive A58 (tsA58) strain directed to widespread tissues by the interferon-inducible Class I antigen promoter from the mouse H-2Kb locus.
The following describes the phenotype of H-2Kb-tsA58 transgenic mice from founder line 6 (H2ts6; also called the Immortomouse): | ||
| 008212 | STOCK Smn1tm1Msd Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 transgene (SMN2 low copy line 89) exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the PrP-SMN transgene; with the mouse prion protein (PrP or Prnp) promoter directing full-length human SMN expression at high levels in neurons (with low expression in skeletal muscle and liver). When the PrP-SMN transgene is derived from PrP92-SMN founder mice, high SMN expression in spinal cord and brain is observed. Homozygous SMN2; Smn; Prp92-SMN mice are rescued from the severe SMA phenotype, have significantly increased lifespan (average of 210 days) and have normal lumbar motor neuron root counts. Homozygous SMN2; Smn; PrP92-SMN mal ..... For more information please see the full phenotype on the strain data sheet | ||
| 002648 | STOCK a/a Cln6nclf/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the neuronal ceroid lipofuscinosis mutation (nclf) have a phenotype that is very similar to mice homozygous for the motor neuron degeneration mutation (mnd). Homozygous mutant mice display abnormal proteolipid storage by lysosomes termed neuronal ceroid lipofuscinosis. Mice also develop progressive retinal degeneration at an early age. Affected neuronal lysosomes show abnormal morphology. Severe cerebral gliosis and Wallerian degeneration of long neuronal tracts occur late in the disease and account for the motor neuron abnormalities and eventual paralysis. Homozygotes live to approximately 9 months of age. | ||
| 008474 | STOCK Tg(THY1-SNCA*A53T)F53Sud/J | Cryopreserved - Ready for recovery |
| These mice are transgenic for the A53T mutation of the human SNCA (synuclein, alpha) gene under the control of a human THY1 (thymus cell antigen 1, theta) promoter. Hemizygotes are viable and fertile and develop a Parkinson-like phenotype upon aging. Hind limb paralysis due to loss of motor neurons and a resting tremor are initially seen at about eight months of age. No Lewy body-like pathology is noted. Cell death in the spinal cord (extensive) and brain are observed. Expression of the transgene is 10-fold increased in the brain and 20-fold in the spinal cord. | ||
| 014544 | STOCK Tg(tetO-ABL1*P242E*P249E)CPdav/J | Cryopreserved - Ready for recovery |
| Hemizygous AblPP transgenic mice are viable and fertile with no reported phenotypic abnormalities. The TRE-AblPP transgene has the Tet response element (TRE or tetO) upstream of a human c-Abl 1b isoform modified to harbor two amino acid substitutions (P242E/P249E) in the conserved proline residues of the SH2-SH3 linker region that render the protein constitutively active (AblPP). When bred with other mice expressing tetracycline-controlled transactivator protein (tTA) or reverse tetracycline-controlled transactivator protein (rtTA), AblPP expression in the resulting double mutant offspring can be regulated with tetracycline or its analog doxycycline (dox). As designed, AblPP transgenic mice have no reported levels of AblPP expression in the absence of tTA.
These AblPP transgenic mice allow Tet-Off/Tet-On expression of a constitutively active form of c-Abl, and may be may be useful for studying tau phosphorylation and the pathogenesis of neurodegeneration/neuroinflammatio ..... | ||
| 012441 | STOCK Tg(tetO-LRRK2*G2019S)E3Cai/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the human leucine-rich repeat kinase 2 mutant transgene, (LRRK2*G2019S), are viable and fertile. Expression of LRRK2*G2019S is regulated by a tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of LRRK2*G2019S protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may function as both an active GTPase and kinase. LRRK2 may regulate alpha-synuclein-mediated neuropathology through modulating the intracellular trafficking and accumulation of SNCA protein. The amino acid mutation in the kinase domain of LRRK2 may decrease proteasomal degradation of LRRK2. These mice may be useful for studying Parkinson's disease pathogenesis and neurodegenerati ..... For more information please see the full phenotype on the strain data sheet | ||
| 012442 | STOCK Tg(tetO-SNCA*A53T)E2Cai/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the human synuclein (alpha-syn) mutant transgene, (SNCA*A53T) are viable and fertile. Expression of SNCA*A53T is regulated by the tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of SNCA*A53T protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. Mutations in alpha-syn greatly accelerate the formation of fibrillar aggregates causing various forms of cytotoxicity, including impairment of proteasomal and lysosomal activities, disruption of ER-Golgi traffic and microtubule-based transport, and dysfunction of mitochondria. SNCA*A53T mice develop age-dependent, progressive neurodegeneration. These mice may be useful for studying the Parkinson's disease pathogenesis and neurodegeneration elicited by the toxic effec ..... For more information please see the full phenotype on the strain data sheet | ||
| 012449 | STOCK Tg(teto-LRRK2)C7874Cai/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the human leucine-rich repeat kinase 2 transgene, (LRRK2), are viable and fertile. Expression of LRRK2 is regulated by a tetracycline operator (tetO); also called tetracycline-responsive element (TRE, TetRE) or tet-operator). When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of LRRK2 protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. LRRK2 protein, also known as Dardarin, contains multiple functional domains and may function as both an active GTPase and kinase. LRRK2 may regulate alpha-synuclein-mediated neuropathology through modulating the intracellular trafficking and accumulation of SNCA protein. These mice may be useful for studying Parkinson's disease pathogenesis and neurodegeneration. | ||
| 017529 | 91-1 (Hsa21) mES cells | In Stock |
| 006514 | B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx | Research Strain |
| Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase implicated in transcriptional regulation and mRNA splicing. Mutations in IGHMBP2 are associated with the degeneration of alpha motor neurons and spinal muscular atrophy (DSMA1, SMARD1, HMN6) as well as dilated cardiac myopathy (DCM) and skeletal myopathy. nmd-2J mutant mice are characterized by a progressive paralysis that begins in the hindlimbs and moves to the forelimbs in the later stages of the disease. Homozygotes initially are identified by contracted hindlimbs and impaired movement beginning at two weeks of age. Mice rarely survive past 4 weeks of age. Combining nmd-2J mice with transgenic mice expressing Ighmbp2 under the control of the rat neuron-specific enolase promoter (Stock No. 003834, TgNI) halts neuromuscular degeneration, but reveals the presence of cardiac myopathy followed by premature death as a result of congestive he ..... For more information please see the full phenotype on the strain data sheet | ||
| 006513 | B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)45Cx/Cx | Research Strain |
| Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase implicated in transcriptional regulation and mRNA splicing. Mutations in IGHMBP2 are associated with the degeneration of alpha motor neurons and spinal muscular atrophy (DSMA1, SMARD1, HMN6) as well as dilated cardiac myopathy (DCM) and skeletal myopathy. nmd-2J mutant mice are characterized by a progressive paralysis that begins in the hindlimbs and moves to the forelimbs in the later stages of the disease. Homozygotes initially are identified by contracted hindlimbs and impaired movement beginning at two weeks of age. Mice rarely survive past 4 weeks of age. Combining nmd-2J mice with transgenic mice expressing Ighmbp2 under the control of the rat neuron-specific enolase promoter (Stock No. 003834, TgNI) halts neuromuscular degeneration, but reveals the presence of cardiac myopathy followed by premature death as a result of congestive he ..... For more information please see the full phenotype on the strain data sheet | ||
| 003834 | B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx | Research Strain |
| Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase implicated in transcriptional regulation and mRNA splicing. Mutations in IGHMBP2 are associated with the degeneration of alpha motor neurons and spinal muscular atrophy (DSMA1, SMARD1, HMN6) as well as dilated cardiac myopathy (DCM) and skeletal myopathy. nmd-2J mutant mice are characterized by a progressive paralysis that begins in the hindlimbs and moves to the forelimbs in the later stages of the disease. Homozygotes initially are identified by contracted hindlimbs and impaired movement beginning at two weeks of age. Mice rarely survive past 4 weeks of age. Combining nmd-2J mice with transgenic mice expressing Ighmbp2 under the control of the rat neuron-specific enolase promoter (Stock No. 003834, TgNI) halts neuromuscular degeneration, but reveals the presence of cardiac myopathy followed by premature death as a result of congestive he ..... For more information please see the full phenotype on the strain data sheet | ||
| 003833 | B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2nmd-2J/Cx | Research Strain |
| Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase implicated in transcriptional regulation and mRNA splicing. Mutations in IGHMBP2 are associated with the degeneration of alpha motor neurons and spinal muscular atrophy (DSMA1, SMARD1, HMN6) as well as dilated cardiac myopathy (DCM) and skeletal myopathy. nmd-2J mutant mice are characterized by a progressive paralysis that begins in the hindlimbs and moves to the forelimbs in the later stages of the disease. Homozygotes initially are identified by contracted hindlimbs and impaired movement beginning at two weeks of age. Mice rarely survive past 4 weeks of age. Combining nmd-2J mice with transgenic mice expressing Ighmbp2 under the control of the rat neuron-specific enolase promoter (Stock No. 003834, TgNI) halts neuromuscular degeneration, but reveals the presence of cardiac myopathy followed by premature death as a result of congestive he ..... For more information please see the full phenotype on the strain data sheet | ||
| 004417 | C3H/HeJ-Pla2g6m1J/GrsrCx | Research Strain |
| This recessive mutant is a hypomorph, caused by a spontaneous IAP insertion in intron 1, that provides a model for infantile neuroaxonal dystrophy (INAD). Mice homozygous for the Pla2g6m1J mutation can often be distinguished by a slight tremor at approximately 90 days of age. A gradual weight loss also begins at that time and progresses until premature death. Loss of grip strength presents between 60 to 80 days of age and progresses such that by 100 days of age homozygotes can no longer hang suspended in the wire-hang test for more than a few seconds. The average age of death is approximately 120 days and few homozygotes survive beyond 6 months of age. Astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have aberrant ATP-stimulated calcium signaling. Capacitative calcium entry in these astroctyes was found to be only 45% that of wildtype controls. Tubulovesicular accumulations, called spheroids, are found throughout the neuropil of brains ..... For more information please see the full phenotype on the strain data sheet | ||
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