Search Criteria: Research Area is "Neurobiology Research: Neuromuscular Defects"
New Strains Awaiting Transfer from the Donor
Additional Register Interest Strains
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 001801 | C57BL/10ScSn-Dmdmdx/J | Level 3 |
| The X-linked dystrophin gene (Dmd) is highly expressed in muscle cells and encodes a cytoskeletal protein which localizes to the inner face of the sarcolemma. Dystrophin molecules bind to cytoskeletal F-actin and transmembrane beta-dystroglycan as part of a complex, multimolecular unit that mediates signaling between the intracellular cytoskeleton and the extracellular matrix. The structure and localization also suggest that dystrophin is important for stabilizing the plasma membrane, particularly during contraction. The mdx mutation of Dmd is recessive and heterozygous females are visually indistinguishable from wild-type mice. Females homozygous and males hemizygous for the Dmdmdx allele retain a normal lifespan and can survive up to two years. Like human patients who suffer from one of the most common neuromuscular diseases, Duchenne muscular dystrophy (DMD), the Dmdmdx mutants do not express dystrophin and therefore have been ..... For more information please see the full phenotype on the strain data sheet | ||
| 016223 | B6(Cg)-Tg(Phox2b-cre)3Jke/J | Repository- Live |
| Phox2b-Cre BAC transgenic mice are viable and fertile, with Cre recombinase expression under control of the Phox2b promoter/enhancer regions within the BAC transgene. cre-expressing neurons co-express PHOX2B (as shown by in situ hybridization). Phox2b-Cre BAC transgenic mice from founder line 3 exhibit cre expression directed primarily to the hindbrain; specifically the dorsal motor nucleus of the vagus (DMV) in parasympathetic visceral and branchial motor neurons, nodose sensory ganglia, and nucleus of the solitary tract (NTS) cells. No transgene expression is reported in hypothalamus or spinal cord. Although endogenous Phox2b expression is reported in peripheral ganglia along with the enteric nervous system, no peripheral transgene expression is reported for these Phox2b-Cre BAC transgenic mice. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequences in the offspr ..... For more information please see the full phenotype on the strain data sheet | ||
| 008355 | B6.129(Cg)-Slc6a4tm1Kpl/J | Repository- Live |
| Mice that are homozygous for the serotonin transporter targeted mutation (SERT-/- or 5-HTT-/-) are viable and fertile with a superficially unremarkable behavioral phenotype through early adulthood. Serotonin uptake is completely absent in homozygous mice. SERT-deficiency is pleiotropic (many different phenotypic traits). Homozygotes and, to a lesser extent, heterozygotes exhibit diminished responses to serotonin receptor agonists and other classes of drugs (including MDMA, SSRIs, 8-OH-DPAT, and DOI). SERT-mutant mice are also reported to have increased anxiety-like behaviors, altered neuroendocrine and sympathoadrenal responses to even minor stress, diminished aggression, altered emotional learning, substantially increased rapid eye movement (REM) sleep time, reduced brain excitability, increased body temperature, increased colonic motility, reduced spinal reflex to injury, reduced bladder response to stretching, blood pressure responses, diminished bone and muscl ..... For more information please see the full phenotype on the strain data sheet | ||
| 013149 | B6.129-Dysftm1Kcam/J | Repository- Live |
| Mice homozygous for this targeted mutation are viable, fertile and show a normal growth rate. Mice develop a slowly progressive muscular dystrophy. By the age of 2 months, a few individual necrotic and centrally nucleated fibers can be detected throughout the muscle; the number increases with age. By 8 months, the muscle develops all of the pathological characteristics of muscular dystrophy (e.g. regenerating fibers, split fibers, muscle necrosis with macrophage infiltration and fat replacement). The severity of the pathology varies in different muscles. Muscle fibers are defective in Ca2+-dependent sarcolemma resealing/repair. No protein product from the targeted gene is detected in skeletal muscle microsomes. This mutant mouse strain represents a model that may be useful in studies of muscle disease and repair. | ||
| 014097 | B6.129S1(Cg)-Gdnftm1.1Neas/J | Repository- Live |
| These Gdnfflox mutant mice possess loxP sites flanking exon 3 of the glial cell line derived neurotrophic factor (Gdnf) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. GDNF is expressed in muscle and is required for the development of gamma motor neurons (γMNs). When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. When these Gdnfflox mice are bred to mice carrying a muscle-specific Myf5Cre tissues (see Stock No. 007893), mutation or muscle-spindle-specific Egr3Cre mutation, disruption of Gdnf results in a loss of γMNs with preservation of the spindle, sensory innervation, and functional sensorimotor connectivity. This strain may b ..... For more information please see the full phenotype on the strain data sheet | ||
| 013786 | B6.129S1(Cg)-Lama2tm1Eeng/J | Repository- Live |
| A targeting vector was designed to insert a β-galactosidase (lacZ) gene and a neomycin (neo) resistance cassette downstream of the start codon of the laminin, alpha 2 (Lama2) gene, abolishing gene function. Heterozygous dyW mice are viable, fertile and normal in size, while homozygous mice exhibit growth retardation and most die between 2-4 weeks of age. Laminin2, or Merosin, is expressed in striated muscle, peripheral and central nervous systems, thymus, thyroid, intestine, and testis and has been associated with merosin-deficient congenital muscular dystrophy (MCMD). Homozygous dyW mice are passive, small, and emaciated, and demonstrate partial hindleg lameness and clasping. Their muscles contain necrotic fibers with occasional areas of regeneration, and they exhibit pronounced fibrosis and increased creatine kinase (CK) activity. When heterozygous dyW mice are bred with transgenic mice expressing the mouse m ..... For more information please see the full phenotype on the strain data sheet | ||
| 009125 | B6.129S1(Cg)-Lmnatm1Stw/BkknJ | Repository- Live |
| Mice heterozygotes for this lamin A/C mutation are viable and fertile. The targeted allele does not express both full-length transcripts or stable lamin A/C protein. Homozygotes (Lmna -/- mice) exhibit severely retarded postnatal growth beginning as early as 2 weeks of age and abnormal movement/gait by 3-4 weeks of age that progresses to distinct scoliosis/kyphosis and death around 8 weeks of age. Lmna -/- mice also have tissue-specific alterations of nuclear envelope integrity and mislocalization of the inner nuclear membrane protein emerin. In skeletal and cardiac muscle, this results in rapid myopathic onset closely resembling Emery-Dreifuss muscular dystrophy (EDMD). These mice are a model for the autosomal variant of EDMD and may be useful in studying the role of lamins, inner nuclear membrane proteins, nuclear envelope integrity, and chromatin domain anchoring sites in EDMD.
In an attempt to offer alleles on well-characterized or multiple genetic background ..... | ||
| 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 | ||
| 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 ..... | ||
| 000524 | B6.WK-Lama2dy-2J/J | Repository- Live |
| Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2dy and Lama2dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet | ||
| 013157 | B6;129S6-Lrp4tm1Her/J | Repository- Live |
| The Lrp4 hypomorphic allele (Lrp4ECD, Lrp4 EC STOP, Lrp4hypo, Megf7-, Lrp4STOP1723) contains a premature stop codon within the exon immediately upstream of the transmembrane segment. Much of the targeted exon and 3' adjacent intron is absent. No functional full-length transcripts are detected in brain tissue. The transcript generated is out of frame beyond the sequences coding for the transmembrane segment, which results in a truncated protein with loss of the transmembrane and intracellular domains of the LRP4 protein. While the LRP4 extracellular domain (ECD) is expressed normally, the lack of a membrane anchor leads to shedding/secretion of the ECD into the extracellular space. This results in diminished, but not completely absent, LRP4 interactions with its extracellular ligands (i.e., hypomorphic phenotype). Mice homozygous for this Lrp4 hypomorphic allele are viable and fertile. Homozygous mice exhibit growth retardation, fully penetrant polysyndactyly wi ..... For more information please see the full phenotype on the strain data sheet | ||
| 012716 | B6;129S6-Sun2tm1Mhan/J | Repository- Live |
| Synaptic myonuclear anchorage is not perturbed in Sun2 (Sad1 and UNC84 domain containing 2) homozygous targeted mutation mice. When combined with a Sun1 targeted mutation, however (see Stock No. 012715), defects are seen. Additionally, Sun1/Sun2 compound mutant pups die neonatally and display neuronal migration defects in the brain. Homozygous Sun2 mice are fertile and display no obvious abnormalities in growth and development. This gene does not appear to play a critical role in meiosis. This strain may be useful in neuromuscular research. | ||
| 012705 | B6;CBA-Tg(ATXN3*)84.2Cce/IbezJ | Repository- Live |
| 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 | ||
| 002378 | B6Ros.Cg-Dmdmdx-4Cv/J | Repository- Live |
| The Dmdmdx-4Cv and Dmdmdx-5Cv strains have 10 times fewer revertants than the Dmdmdx and Dmdmdx-2Cv strains as viewed in quadricep cross-sections. This is not attributable to genetic background or viral infections. These reversion rate differences may be attributable to differences in the location of the point mutation. The large number of revertants in Dmdmdx mutants has complicated the analysis of gene or cell therapies. These mutants are more useful for this purpose. All these strains are also hemizygous for Hprta and Pgk1a (both are on the X chromosome). | ||
| 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. | ||
| 008393 | C3H;101-Dync1h1Swl/PopJ | Repository- Live |
| 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 | ||
| 009345 | C57BL/6J-Mstnlean/J | Repository- Live |
| Mice homozygous for this ENU-induced mutation, called the lean (Ln) allele of myostatin (MstnLn), are viable and fertile. The MstnLn allele alters mRNA splicing and results in an additional larger transcript containing a 128 basepair insert at the junction between exons 2 and 3. This insertion encodes an additional 4 amino acids before a premature stop codon (ASDNX), and is predicted to generate a truncated protein containing the Mstn signal sequence and propeptide, but lacking the ligand portion of the molecule. In addition to this abnormal splicing product, the mRNA from mutant males is also reduced in abundance by approximately 60% compared to wildtype males. When maintained on normal diet, homozygous (MstnLn/Ln) mice exhibit increased muscularity. When maintained on a high fat diet, homozygotes exhibit glucose tolerance, protection against overall insulin resistance, improved muscle and liver insulin sensitivity (with decreased ..... For more information please see the full phenotype on the strain data sheet | ||
| 016193 | FVB-Tg(ACTA1-PABPN1*A17)1Drub/DrubJ | Repository- Live |
| Mice hemizygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities until roughly four months of age. At four months, hemizygotes develop a progressive muscle weakness (measured by grip strength, wire maneuver and vertical gripping tests), which progresses to late onset locomoter defects around nine months of age. At nine months mice cannot lift their own body weight. They drag their pelvis when walking. There is no difference in body weight or mortality up to 15 months of age compared to controls. Hemizygotes develop KCl-insoluble inclusions containing PABPN1 in the nuclei of skeletal muscle fibers with tubulo-filamentous ultrastructures. The proportion of myocte nuclei with aggregates increases with age. Significantly elevated numbers of TUNEL-positive myocyte nuclei can be found at six and 12 months. TUNEL staining is widely used as a cell-death marker in muscle diseases in mice and humans. Muscles of hemizy ..... For more information please see the full phenotype on the strain data sheet | ||
| 005058 | FVB.Cg-Tg(SMN2)2Hung Smn1tm1Hung/J | Repository- Live |
| Mice that are homozygous for the Smn1 targeted mutation and hemizygous 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 phenotype. These mice exhibit a molecular and progressive neurodegenerative phenotype similar to Type III spinal muscular atrophy. 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. | ||
| 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 ..... | ||
| 012630 | FVB/N-Tg(GFAP-HTT*160Q)31Xjl/J | Repository- Live |
| 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. | ||
| 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 | ||
| 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 | ||
| 010710 | FVB;129S6-Sncatm1Nbm Tg(SNCA)1Nbm/J | Repository- Live |
| These PAC-Tg(SNCAWT);Snca-/- mice are viable and fertile, harboring a Snca knockout allele and a transgene encoding the human α-synuclein. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by human α-synuclein from the two total insertions of the PAC-Tg(SNCAWT). While brain RNA expression of SNCAWT is more than 50-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCAWT are ~100-fold greater than normal endogenous mouse α-synuclein. PAC-Tg(SNCAWT);Snca-/- mice do not show any enteric nervous system abnormalities or widespread α-synuclein aggregation in brain or colon. No detectable motor behavior impairments, autonomic abnormalities, olfactory dysfunction, dopaminergic deficits, Lewy body inclusions or neurodegeneration are ..... For more information please see the full phenotype on the strain data sheet | ||
| 010799 | FVB;129S6-Sncatm1Nbm Tg(SNCA*A53T)1Nbm Tg(SNCA*A53T)2Nbm/J | Repository- Live |
| These double transgenic homozygous mice (dbl-PAC-Tg(SNCAA53T);Snca-/- mice) are viable and fertile, harboring a Snca knockout allele and two independently inserted transgenes encoding the human A53T-mutant α-synuclein associated with autosomal dominant Parkinson's disease. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by α-synuclein*A53T from the four total insertions of the PAC-Tg(SNCAA53T). While brain RNA expression of SNCAA53T is ~10-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCAA53T are ~80-fold greater than normal endogenous mouse α-synuclein. By three months of age, dbl-PAC-Tg(SNCAA53T);Snca-/- mice show robust abnormalities in enteric nervous system function (impaired colonic motility [males only] and prolonge ..... For more information please see the full phenotype on the strain data sheet | ||
| 008212 | STOCK Smn1tm1Msd Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/J | Repository- Live |
| 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 | ||
| 014563 | STOCK Utrntm1Ked Dmdmdx/J | Repository- Live |
| Female mice that are homozygous for the Utrntm1Ked allele and the Dmdmdx allele, and male mice that are homozygous for the Utrntm1Ked allele and hemizygous for the Dmdmdx allele, exhibit a more severe phenotype than single Dmdmdx mutants: earlier onset of muscle dystrophy (degeneration, macrophage infiltration and necrosis), weight loss after weaning, joint contractures, kyphosis, dystrophy of extraocular muscles, abnormal electrocardiograms, infertility and premature death. Growth retardation onset is at weaning. By 4 of 6 weeks of age, the double mutants exhibit reduced body weight, reduced mobility, abnormal breathing pattern and slack posture. Muscle weakness and kyphosis (curvature of the spine) is progressive and the double mutant mice develop a waddling gait. Necrosis of the diaphragm muscle is observed in 6 day old double mutant mice. Muscle fibers with centralized nuclei are seen in ..... For more information please see the full phenotype on the strain data sheet | ||
| 013158 | STOCK Utrntm1Ked/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of kidney, lung and brain tissues. Levels of transcript are significantly reduced, as detected by RNase protection assay. Neuromuscular junctions from homozygotes lack extrasynaptic nerve sprouts, exhibit reduced postsynaptic membrane folding and fewer (approximately 40% reduction) acetylcholine receptors. The amplitude of miniature endplate currents (in extensor digitorum longus muscle) is reduced by 20%. Homozygotes exhibit abnormal Schwann cell compartments and reduced internodal length.
When bred with mice carrying the Dmdmdx allele (see Stock No. 001801) the resulting double mutant mice exhibit a more severe phenotype than single Dmdmdx mutants: earlier onset ..... | ||
| 005938 | STOCK Tg(Eno2-cre)39Jme/J | Repository- Live |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome.
Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet | ||
| 017604 | C57BL/6-Tg(Prnp-TARDBP*M337V)4Ptrc/J | Under Development - Now Accepting Orders |
| 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 | ||
| 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 | ||
| 016622 | STOCK Utrntm1Jrs Dmdmdx/J | Under Development - Now Accepting Orders |
| 005987 | 129-Achetm1Loc/J | Cryopreserved - Ready for recovery |
| Homozygous mice have 25% fetal mortality. Those born have retarded growth, fine motor tremors, unusual posture and gait, no righting reflex, malformed pinna, and sealed eyelids. These mice die emaciated and dehydrated by 3 weeks of age. Enriched diets for the nursing female and pups allow homozygous mice to survive to adulthood. Males exhibit no breeding behavior. Homozygous females can become pregnant when bred to heterozygous or wildtype males, but both female and pups do not survive. Acetylcholinesterase (AChE) activity is completely abrogated in serum and tissue from homozygous mice, and approximately half in heterozygotes. Many symptoms of organophosphate poisoning are observed in homozygous mice, including pulsating paws, body tremor, abnormal gait, pinpoint pupils, muscle weakness, and early death following seizure. When restrained, a white mucus forms on the eyes and seizures may occur. Mice also have several developmental delays, low body mass, decreased pain response, sexual ..... For more information please see the full phenotype on the strain data sheet | ||
| 006830 | 129-Dysftm1Kcam/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable, fertile and show a normal growth rate. Mice develop a slowly progressive muscular dystrophy. By the age of 2 months, a few individual necrotic and centrally nucleated fibers can be detected throughout the muscle; the number increases with age. By 8 months, the muscle develops all of the pathological characteristics of muscular dystrophy (e.g. regenerating fibers, split fibers, muscle necrosis with macrophage infiltration and fat replacement). The severity of the pathology varies in different muscles. Muscle fibers are defective in Ca2+-dependent sarcolemma resealing/repair. No protein product from the targeted gene is detected in skeletal muscle microsomes. This mutant mouse strain represents a model that may be useful in studies of muscle disease and repair. | ||
| 006831 | 129-Sgcbtm1Kcam/J | Cryopreserved - Ready for recovery |
| Homozyous mice are viable and fertile. They develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. Severe dystrophic changes including necrosis, dystrophic calcification, fatty infiltration, central nucleation, fibrosis, atrophy and hypertrophy are detected in diaphragm and calf/thigh muscle. Some of these changes occur in 4-week-old animals and accumulate with age. At 20 weeks of age, several regions of focal myocardial necrosis have been observed; small areas of necrotic myocardiocytes may be observed as early as 9 weeks of age. At 30 weeks of age, large areas of fibrosis are detected. Sarcoglycan-sarcospan and dystroglycan complexes are disrupted in skeletal, cardiac, and smooth muscle membranes. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle results in vascular irregularities in heart, diaphragm, and kidneys. Vascular constrictions in skeletal muscle, cardiac muscle and kidneys is observed. Epsilon-sarcoglycan (SGCE) is also reduced ..... For more information please see the full phenotype on the strain data sheet | ||
| 000641 | 129P1/ReJ-Lama2dy/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2dy and Lama2dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet | ||
| 008077 | 129S1/Sv-Bchetm1Loc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this BChE mutant allele are viable and fertile with no reported spontaneous abnormalities. All tissues and plasma from homozygous mice are devoid of BChE activity. As BChE (butyrylcholinesterase) is a bioscavenger molecule protecting acetylcholinesterase (AChE) activity against nerve agents and organophosphates, homozygous BChE-deficiency leads to impaired protection from toxic compounds. These BChE mutant mice are a model for human butyrylcholinesterase deficiency and may be useful for studying metabolic effects of organophosphorus toxicants or nerve agents, neurotransmitter function, and anti-Alzheimer's drug therapies.
Of note, the donating investigator has multiple strains available that may be useful for testing toxic compounds, including the AChE-deficient (Stock No. 005987), G117H BChE transgenic (Stock No. 007577), and BChE-deficient (see Stock ..... | ||
| 005358 | 129S6/SvEvTac-Car3tm1Gkim/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted allele are viable, fertile, normal in size and life span and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Histological examination of tissues discerns no anomalies. Similarly, gas chromatography-mass spectrometry analysis of the fatty-acid distribution in serum, muscle, liver, and fat reveal no differences between mutant and wildtype mice. When exposed to an atmosphere of 100% oxygen homozygous mice display similar mean survival times as wildtype (~ 70 hours). The contractile properties of soleus muscle derived from mutant mice exhibit some differences from wildtype mice. Mutant mice display shorter relaxation and half-relaxation times for single and tetanic twitches and a minor reduction tetanic force. Microarray analysis detects an increase (~30%) in carbonic anhydrase 13 expression. | ||
| 005098 | A.B6 Tyr+-Spnb4qv-7J/J | Cryopreserved - Ready for recovery |
| This phenotype becomes visible at 4 weeks of age (+/- 0.4, n=14); the mutants are smaller than their littermates and have difficulty supporting their weight on their hind limbs, which they drag intermittently. Mobility is limited but the mice are able to move around slowly. When the mice are lifted by their tail, the hind limbs may show typical extension initially but then are quickly clasped to the body.
Mapping results showed NMF261 to be nonrecombinant with D7Mit266 +/- 5.5 cM (one-sided 95% confidence limit; n=19 affected, n=14 unaffected F2); however, further information was obtained through a complementation test with Spnb4qv-lnd (Jax# 001769), i.e.the results of one heterozygote mating between NMF261 and Spnb4 resulted in 2 affected mice in a total of 8 progeny, suggesting NMF261 to be an allele of Spnb4qv-lnd. Standard pathology work-up on three mutants (43, 49, or 88 days of age) revealed no abnormalities; whole muscle mounts of ..... 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 | ||
| 009652 | B6.129(Cg)-Dag1tm2.1Kcam/J | Cryopreserved - Ready for recovery |
| These mice possess loxP sites on either side of exon 2 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice with a cre recombinase gene under the control of a promoter of interest, exon 2 of the targeted gene is deleted in the tissue of interest. | ||
| 006836 | B6.129-Dag1tm1Kcam/J | Cryopreserved - Ready for recovery |
| Heterozygotes are viable and fertile, but homozygous embryos exhibit gross developmental abnormalities beginning around 6.5 days of gestation. This lethality is attributed to a disruption of Reichert’s membrane, an extra-embryonic basement membrane. Laminin and collagen IV are specifically disrupted. No detectable transcript or protein is produced from this allele in homozygous embryos. Northern blot analysis of skeletal muscle RNA shows that transcript levels in heterozygotes are only 10-20% lower than those in wild-type mice. This mutant mouse strain represents a model that may be useful in studies of muscular dystrophies linked to dystrophin-glycoprotein complexes, and developmental processes. | ||
| 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 ..... | ||
| 006891 | B6.129-Mgat1tm2Jxm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this floxed targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to tissue-specific cre transgenic strains, the loxP-flanked exon is deleted by cre expression. | ||
| 004603 | B6.129-P2rx2tm1Ckn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by RT-PCR of intestinal tissue or Western blot analysis of dorsal root and trigeminal ganglia. No immunoreactive staining was detected in ileum by immunohistochemical analysis. Myenteric neurons exhibit altered intracellular electrophysiological action potentials. Fast excitatory postsynaptic potentials (fEPSPs) from mutant S neurons (myenteric plexus interneurons and motorneurons) are inhibited by the nicotinic cholinergic receptor antagonist, mecamylamine. ATP-induced depolarization of isolated mutant S neurons is abolished. Peristalsis is impaired in the ileum. Mutant mice ventilatory response to hypoxia is diminished, as determined by in vitro carotid sinus nerve preparation. ATP and ATP analog (alpha,beta-methyleneATP) elicits a faster discharge (afferent activity) in mutant sinus ner ..... For more information please see the full phenotype on the strain data sheet | ||
| 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 | ||
| 006832 | B6.129-Sgcbtm1Kcam/1J | Cryopreserved - Ready for recovery |
| Homozyous mice are viable and fertile. They develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. Severe dystrophic changes including necrosis, dystrophic calcification, fatty infiltration, central nucleation, fibrosis, atrophy and hypertrophy are detected in diaphragm and calf/thigh muscle. Some of these changes occur in 4-week-old animals and accumulate with age. At 20 weeks of age, several regions of focal myocardial necrosis have been observed; small areas of necrotic myocardiocytes may be observed as early as 9 weeks of age. At 30 weeks of age, large areas of fibrosis are detected. Sarcoglycan-sarcospan and dystroglycan complexes are disrupted in skeletal, cardiac, and smooth muscle membranes. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle results in vascular irregularities in heart, diaphragm, and kidneys. Vascular constrictions in skeletal muscle, cardiac muscle and kidneys is observed. Epsilon-sarcoglycan (SGCE) is also reduced ..... For more information please see the full phenotype on the strain data sheet | ||
| 006833 | B6.129-Sgcbtm1Kcam/2J | Cryopreserved - Ready for recovery |
| Homozyous mice are viable and fertile. They develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis. Severe dystrophic changes including necrosis, dystrophic calcification, fatty infiltration, central nucleation, fibrosis, atrophy and hypertrophy are detected in diaphragm and calf/thigh muscle. Some of these changes occur in 4-week-old animals and accumulate with age. At 20 weeks of age, several regions of focal myocardial necrosis have been observed; small areas of necrotic myocardiocytes may be observed as early as 9 weeks of age. At 30 weeks of age, large areas of fibrosis are detected. Sarcoglycan-sarcospan and dystroglycan complexes are disrupted in skeletal, cardiac, and smooth muscle membranes. Loss of the sarcoglycan-sarcospan complex in vascular smooth muscle results in vascular irregularities in heart, diaphragm, and kidneys. Vascular constrictions in skeletal muscle, cardiac muscle and kidneys is observed. 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 | ||
| 006837 | B6.129-Sspntm1Kcam/J | Cryopreserved - Ready for recovery |
| Homozygotes are viable and fertile. No protein product from the targeted gene is detected in skeletal muscle, cardiac muscle, or intestinal smooth muscle. Other components of the dystrophin-glycoprotein complex (DGC) are maintained in the sarcolemma in the absence of this gene product. The muscle appears to be normal by histological analysis, and sarcolemma integrity is maintained as determined by serum creatine kinase measurements and the absence of Evans blue dye uptake. The muscle also maintains normal force and power generation capacity. These mice do not show any hallmarks of a muscular dystrophy phenotype. This mutant mouse strain represents a model that may be useful in studies of muscle function. | ||
| 000631 | B6.129P1-Lama2dy/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2dy and Lama2dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet | ||
| 004751 | B6.129P2-Ugt8atm1Pop/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation have a postnatal lethal phenotype and most do not survive past postnatal day 21 to 28. Surviving homozygotes do not live past 100 days of age. Homozygous female mice are fertile but unable to care for pups. Homozygous male mice are infertile. No gene product (mRNA) is detected by Northern blot analysis of brain tissue from homozygote animals. Mice that are homozygous for the mutation are smaller in size than wildtype and heterozygous littermates. Beginning at 12-14 days of age, homozygotes develop mild ataxia, head jerking movements, and tremors that become more noticeable by 16-20 days of age. The abnormal neurological phenotype is progressive; by 60 days of age many mutants exhibit complete hindlimb paralysis and difficulty breathing. Homozygotes do not synthesize galactolipid galactocerebroside, heterozygotes exhibit reduced levels. Although myelin synthesis and myelin sheath (compact myelin) formation is mostly unaltered in homozyg ..... For more information please see the full phenotype on the strain data sheet | ||
| 008087 | B6.129S1-Bchetm1Loc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this BChE mutant allele are viable and fertile with no reported spontaneous abnormalities. All tissues and plasma from homozygous mice are devoid of BChE activity. As BChE (butyrylcholinesterase) is a bioscavenger molecule protecting acetylcholinesterase (AChE) activity against nerve agents and organophosphates, homozygous BChE-deficiency leads to impaired protection from toxic compounds. These BChE mutant mice are a model for human butyrylcholinesterase deficiency and may be useful for studying metabolic effects of organophosphorus toxicants or nerve agents, neurotransmitter function, and anti-Alzheimer's drug therapies.
Of note, the donating investigator has multiple strains available that may be useful for testing toxic compounds, including the AChE-deficient (Stock No. 005987), G117H BChE transgenic (Stock No. 007577), and BChE-deficient (see Stock ..... | ||
| 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. | ||
| 008120 | B6.129S4-Timp2tm1Pds/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of lung tissue. Mutant mice are unable to proteolytically activate proMMP-2, proenzyme matrix metalloproteinase-2. Male homozygotes exhibit deficits in fear-potentiated startle respnses and both male and female mutants exhibit reduced prepulse inhibition. Homozygotes exhibit muscle weakness (due to reduced mass of extensor digitorum longus fast-twitch muscle), decreased motor function, abnormal gait and reduced hindlimb extension. The brains of homozygotes in the postnatal week are smaller in size than wildtype controls, with the size difference disappearing after postnatal day 7. Histological analysis reveals abnormal neuromuscular junctions characterized by a larger size with increased nerve branching, reduced cerebellar cortex thickness, and reduced Purkinje cell pr ..... For more information please see the full phenotype on the strain data sheet | ||
| 003823 | B6.129S4-Ttpatm1Far/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Ttpa gene are viable, normal in size and do not display any gross physical abnormalities. The Ttpa protein product is required for the maintenance of proper alpha-tocopherol levels, the major form of vitamin E in plasma and tissues. The absence of Ttpa protein product in homozygous-null animals results in a corresponding 95% reduction in alpha-tocopherol. Low levels of alpha-tocopherol render female mice infertile, a condition that can be addressed with vitamin E supplements. Male fertility is unimpaired. These mice provide a viable model for studying vitamin E deficiency. | ||
| 008275 | B6.129S6-Sgcatm2Kcam/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable and fertile. A loxP-flanked neomycin resistance cassette blocks expression of a His77Cys (H77C) missense mutation introduced into exon 3 of the gene. Alpha-sarcoglycan mRNA is not detected by RT-PCR, and protein is not detected by Western blot or immunofluorescence staining of skeletal muscle. The mice develop progressive muscular dystrophy as early as six weeks of age with typical pathological changes in skeletal muscle and an elevation of serum creatine kinase activity. After germline- or striated muscle-specific Cre-mediated excision of the floxed neomycin cassette, the H77C missense mutation is expressed in the sarcolemma of striated muscles, and homozygotes do not show any sign of muscular dystrophy as late as 88 weeks of age.
For example, when crossed to a strain expressing Cre recombinase in skeletal and cardiac muscle (see Stock No. 006475), this mutant m ..... | ||
| 008682 | B6.129S7-Atxn7tm1Hzo/J | Cryopreserved - Ready for recovery |
| Heterozygous mice carrying a 266 CAG repeat knock-in from the human ataxin 7 gene exhibit hypoactivity, progressive weight loss, retarded growth after 5 weeks of age, droopy eyelids (ptosis) and receded eyes, visual impairment, ataxia, muscle wasting, curvature of the spine (kyphosis), and tremors which are triggered whenever they initiate movement. At the terminal stage of the disease, animals became extremely hypokinetic and did not drink nor eat, even when their chow was wetted and placed at the bottom of the cage. Some mice developed myoclonic seizures around 12 weeks of age and many of the heterozygotes die around this age. Homozygous mice show a gene dosage effect, with their phenotype being more severe and disease progression more rapid, resulting in death around 7-8 weeks of age. The heterozygous mice develop retinal degeneration and post-tetanic potentiation (PTP) impairment. The knock-in expression pattern matches that of wildtype mice in the cerebellum, retina, hippocampus a ..... For more information please see the full phenotype on the strain data sheet | ||
| 004863 | B6.129X1-Snap25tm1Mcw/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice die at birth from respiratory failure. At embryonic day 17.5 to 18.5 homozygous embryos appear smaller and do not display spontaneous movement or sensorimotor reflexes. Dilated vascular channels in subcutaneous tissues give the embryos an external blotchy appearance. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of brain tissue from homozygous animals. Histological analysis of fetal diaphragm tissue reveals a dispersed pattern of innervation and fewer layers of muscle fibers. Thin, disarrayed intercostal and anterior chestwall muscles are also observed. Spontaneous miniature endplate potential (mEPP) activity is detected in the diaphragm phrenic nerve, but no evoked endplate potentials (EPP), evoked neurotransmitter release or muscle contraction is detected with stimulation of the neuromuscular junction (NMJ). Mutant NMJs exhibit larger endplate diameters and lower levels of acetylcholinesterase. Tetrodotoxin (TTX) resistant m ..... For more information please see the full phenotype on the strain data sheet | ||
| 001769 | B6.B10Sn-Spnb4qv-lnd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (qvlnd) 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 ..... | ||
| 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. | ||
| 010494 | B6.Cg-Mpzttrr/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the totterer mutation exhibit mild tremors at approximately 2 weeks of age with worsening muscle weakness such that by 6 to 8 weeks of age they display a shaking, limb grasping, hunched, sprawled, tottering walk and develop late-onset clinical paralysis. Premature death results. Homozygotes are poor breeders, reproducing at most once or twice, and females are poor mothers. | ||
| 009651 | B6.Cg-Sgcatm1Kcam Tg(Ckm-SGCE)1Kcam/J | Cryopreserved - Ready for recovery |
| Homozygous alpha-sarcoglycan targeted mutant mice develop a progressive pathology characteristic of limb-girdle muscular dystrophy type 2D starting at one week of age. Necrosis, regeneration, central nucleation, atrophy, hypertrophy, fiber splitting and endomysial fibrosis are observed in their muscle.
When combined with a human epsilon-sarcoglycan transgene driven by a mouse muscle creatine kinase promoter specific to skeletal and heart muscle (as in this compound mutant strain) mice display no overt phenotype with normal behavior and normal muscle force generation. After mild exercise, the compound mutants show an exaggerated fatigue response. Biochemically, the mice show normal levels of nNOS (NOS1) in muscle homogenates, but variable levels in membrane fractions. By immunofluorescence, nNOS (NOS1) is not localized to all muscle membrane fibers. | ||
| 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 | ||
| 006663 | B6.Cg-Tg(Eno2-cre)39Jme/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome.
Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet | ||
| 003799 | B6.D2-Scn8amed-jo/J | Cryopreserved - Ready for recovery |
| 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 ..... | ||
| 010976 | B6;129-Dtnatm1Jrs/J | Cryopreserved - Ready for recovery |
| None of the known alternatively spliced forms of Dtna (Dtna, dystrobrevin alpha) is detectable in non-synaptic portions of skeletal muscles or brains of homozygous mutants, and no compensation by beta-dystrobrevin is detected. Muscles of homozygous mice appear histologically normal during the first two postnatal weeks, but become dystrophic by 1 month of age. Pathological findings include small groups of degenerating myofibers and infiltrating monocytes. Regenerating fibers, characterized by expression of the embryonic myosin heavy chain and central nuclei, are also present. Degenerating muscle cells are usually grouped in clusters of 3-10 fibers. Histologically, the myopathy of homozygous mice resemble that of Dmdmdx (dystrophin, muscular dystrophy; X linked muscular dystrophy) mice, although Dtna homozygous mutants have fewer centrally nucleated fibres. In these mice, as in mdx mice, the diaphragm is the most severely affected skeletal muscle. O ..... For more information please see the full phenotype on the strain data sheet | ||
| 003817 | B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J/J | Cryopreserved - Ready for recovery |
| B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J mice homozygous for Clcn1adr-mto5J are affected by a neuromuscular disorder that manifests by weaning as an apparent weakness or stiffness in the rear legs, which is particularly noticeable when the mice are picked up and put down again (as when being transferred to a new cage). The phenotype may disappear as the mice get older. Both male and female homozygotes have normal lifespans and are fertile. | ||
| 005520 | B6;CByJ-Cacna1atg-6J/J | Cryopreserved - Ready for recovery |
| The mutants are small and move slowly. Their hind limbs appear to be weak, and barely support their efforts of walking, so that the mice frequently loose their balance. Hind limbs also show intermittent spasms, with extension to the side or backward; there is no noticeable withdrawl reflex when gently pulling a leg. When lifting mutants by their tail, the hind limbs remain close to the body. The average onset of the phenotype is at 3 weeks of age (3.2 +/- 0.6 weeks; n=92). Because of phenotype similarities to Cacna1atg (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
), the tottering mutant, complementation tests were performed between nmf352 and B6.D2-Cacna1atg/J (JR#0544). The results, 3 mutants in a total of 5 progeny, indicate that NMF352 represents an allele of Cacna1atg. Standard pathology work-up on six mutants (22 days of age) revealed no abnormalities, except an atrophic thymus and hypoplastic bone marro ..... 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.
View strain phenotype and additional information on the Neuroscience Mut ..... | ||
| 000224 | B6C3Fe a/a-Scyl1mdf/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the muscle deficient spontaneous mutation (Scyl1mdf) are first recognizable at 5 to 6 weeks of age. Homozygous mutant mice are slightly smaller than normal, have a waddling gait, and often have a nervous tremor. By 12 weeks of age, they can progress only by pulling themselves forward with their forelimbs. Fertility is low in both males and females. Homozygotes have a marked reduction of muscle mass in the sartorius, vastus lateralis, and rectus femoris, and a lesser reduction in forelimb muscles. Histologically, there is atrophy of both type I and type II muscle fibers. | ||
| 000211 | B6C3Fe a/a-Dstdt-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dystonia musculorum-J spontaneous mutation (Dstdt-J)are recognizable at 7 to 10 days of age by clasping of the hindlimbs when mice are lifted by the tail. There is increasing incoordination with alternating hyperextension and hyperflexion of the limbs but no obvious paralysis. Many affected animals die before weaning, but some survive several months. The clinical condition becomes relatively stationary after the first phase of deterioration. Histologically, the nervous system shows degenerative changes and progressive loss of nerve fibers in the central and peripheral branches of the sensory ganglion cells of the spinal and cranial nerves, in the central sensory pathways, and in peripheral sensory structures such as skin, Pacinian corpuscles, and muscle spindles. In the PNS, there is some segmental demyelination and other abnormalities of the myelin sheaths. | ||
| 000182 | B6C3Fe a/a-Eef1a2wst/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the wasted spontaneous mutation (Eef1a2wst) can be recognized at 20 days of age by tremor and uncoordinated body movements. Homozygous mutant mice develop progressive paralysis and do not survive beyond 30 days. They have marked lymphoid hypoplasia in the spleen, thymus, lymph nodes, and peripheral blood. Wasted mice have a severely reduced number of IgA plasma cells in the entire large and small intestines, but the number of such cells in the spleen and the level of serum IgA are normal. Neuronal degeneration occurs in the brain and spinal cord. Spinal cord abnormalities are preceded by gliosis following along a rostrocaudal gradient. Thoracic/abdominal muscles exhibit a progressive denervation of muscle fibers, with progressive asynchronous retraction of motor nerve terminals. (Newbery HJ, et al. 2005) | ||
| 000304 | B6C3Fe a/a-Krt71Ca Scn8amed-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the motor end plate disease-Jackson spontaneous mutation (Scn8amed-J) have a phenotype that resembles the original mutation (Scn8amed). Homozygous motor end plate disease mutant mice show progressive skeletal muscle weakness beginning 8 to 10 days postnatally and usually die within 2 weeks of onset. Other disease characteristics include progressive atrophy of skeletal muscle, marked terminal sprouting of motor nerves along with slower conduction velocity and prolonged refraction, and eventually failure of muscle fibers to show end-plate potentials or action potentials in response to nerve stimulation. Heterozygotes may show mild manifestations of the disease during the first 2 weeks of life but symptoms disappear with age. Both homozygotes and heterozygotes exhibit immunological aberrations. | ||
| 000226 | B6C3Fe a/a-Largemyd/J | Cryopreserved - Ready for recovery |
| 001512 | B6C3Fe a/a-Ttnmdm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the muscular dystrophy with myositis spontaneous mutation (Ttnmdm) can be recognized at 12 days by an unusual stiff and humpbacked posture. Homozygous mutant mice become very stiff and immobile and most are dead by 2 months. Histological sections show severe muscular degeneration with acute chronic myositis. This mutant serves as a model for human tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy type 2J. | ||
| 006549 | B6C3Fe-Del(2Hoxd8,Hoxd9-Hoxd13)1Cx/Cx | Cryopreserved - Ready for recovery |
| Heterozygous mice exhibit a visible hindlimb paralysis. A much more severe paralysis with digit abnormalities is observed in homozygous mice. | ||
| 002388 | B6Ros.Cg-Dmdmdx-2Cv/J | Cryopreserved - Ready for recovery |
| Mice carrying the Dmdmdx-2Cv mutation display a phenotype similar to the original Dmdmdx mutation. Dmdmdx-3Cv mutant mice display a faint dystrophin immunofluorescence in skeletal sarcolemma and skeletal muscle in contrast to the other mutants which show no dystrophin reactivity. This is similar to a group of human DMD patients. This mutant has a low frequency of revertants. The Dmdmdx-4Cv and Dmdmdx-5Cv strains have 10 times fewer revertants than the Dmdmdx and Dmdmdx-2Cv strains as viewed in quadricep cross-sections. This is not attributable to genetic background or viral infections. These reversion rate differences may be attributable to differences in the location of the point mutation. The large number of revertants in Dmdmdx mutants has complicated the analysis of gene or cell therapies. These mutants are more useful for this purpose. All ..... For more information please see the full phenotype on the strain data sheet | ||
| 002377 | B6Ros.Cg-Dmdmdx-3Cv/J | Cryopreserved - Ready for recovery |
| Dmdmdx-3Cv mutant mice display a faint dystrophin immunofluorescence in skeletal sarcolemma and skeletal muscle in contrast to the other mutants which show no dystrophin reactivity. This is similar to a group of human DMD patients. This mutant has a low frequency of revertants. The Dmdmdx-4Cv and Dmdmdx-5Cv strains have 10 times fewer revertants than the Dmdmdx and Dmdmdx-2Cv strains as viewed in quadricep cross-sections. This is not attributable to genetic background or viral infections. These reversion rate differences may be attributable to differences in the location of the point mutation. The large number of revertants in Dmdmdx mutants has complicated the analysis of gene or cell therapies. These mutants are more useful for this purpose. All these strains are also hemizygous for Hprta and Pgk1a (both are on the X chromosome). | ||
| 002379 | B6Ros.Cg-Dmdmdx-5Cv/J | Cryopreserved - Ready for recovery |
| Mice carrying the Dmdmdx-5Cv mutation have 10 times fewer revertants than the Dmdmdx and Dmdmdx-2Cv strains as viewed in quadricep cross-sections. This is not attributable to genetic background or viral infections. These reversion rate differences may be attributable to differences in the location of the point mutation. The large number of revertants in Dmdmdx mutants has complicated the analysis of gene or cell therapies. These mutants are more useful for this purpose. This strain is also hemizygous for Hprta and Pgk1a (both are on the X chromosome). | ||
| 003922 | BALB/cByJ-Clcn1adr-mto2J jgl/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the jagged tail-like (jgl) mutation are easily characterized by their kinked tails that are recognizable by 10 days of age. Full body X-rays revealed exostosis of the vertebrae near the tail tip and in the phalanges of all 4 feet and abnormal vertebral bodies were also reported in two 5 month old homozygotes. Both female and male reproductive organs are smaller than normal with the males showing severe atrophy of the seminiferous tubules and hyperplasia of Leydig cells. Although most homozygotes are not fertile, a few have produced litters. Homozygotes also have atrophic spleens, particularly the white pulp. | ||
| 003798 | C3Fe.Cg-Scn8amed/J | Cryopreserved - Ready for recovery |
| 002433 | C3H/HeJ-Spnb4qv-lnd2J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive Spnb4qv-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. Spnb4qv-lnd/Spnb4qv-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 Spnb4qv-lnd2J homozygous mice exposed to click stimuli of 80, 70, 60 and 50 decibels exhibited only the first expected peak, indicating the mice have norm ..... 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 Bodian revealed pale staining, misshapen brain stem and m ..... | ||
| 005635 | C57BL/6J-Lama2dy-7J/J | Cryopreserved - Ready for recovery |
| Because of the phenotypic similarity to laminin, alpha2 mutations (Lama2a; old symbol: dy), a complementation test with B6.129P-Lama2dy/J was performed; a heterozygous mating (NMF417 X B6.129P1-Lama2dy/J, JR# 000641) resulted in 3 affected mice in a total of 10 progeny, and suggests that NMF417 indeed represents a new allele of Lama2.
The overt phenotype is characterized by hind limb spasms that may extend limbs backward or contract them close to the body; similarly,when the mutants are lifted by their tail, the hind legs do not show the typical side-way spread, but are either contracted to the body or extended backward. The average onset of the phenotype is observed at 4.2 weeks of age (+/- 2.1; n=5). Standard pathology work-up on one mutant (110 days of age) showed myopathy and unmyelinated peripheral nerve fibers. Mutants breed well and a colony can be maintained through regular breeding.
View strain phenotype and additional information on the For more information please see the full phenotype on the strain data sheet | ||
| 005638 | C57BL/6J-Lhfpl5hscy-2J/J | Cryopreserved - Ready for recovery |
| These mutants were identified through head tilt, body leaning and circling behavior which can be detected at wean. ABR testing at 5-6 weeks of age showed these mutants also to be deaf at every frequency tested (click, 8, 16, 32kHz). Male or female mutants have been produced, and a colony can be maintained through normal breeding. Because of the phenotype and the map position of this mutation, a complementation test with Lhfpl5hscy (JR# 4640) has been performed; the results of two homozygote by heterozygote matings, i.e. 7 mutants in a total of 12 progeny, confirmed that nmf430 indeed respresents an allele of Lhfpl5. Standard pathology work-up on one mutant (265 days of age) showed no abnormalities, however, serial sections of the ears revealed a loss of both ganglionic cells and the organ of corti (to view a section of control tissue, see Zheng et al., 2005).
View strain phenotype and additional information on the For more information please see the full phenotype on the strain data sheet | ||
| 004102 | C57BL/6J-Scn8a4J/J | Cryopreserved - Ready for recovery |
| The mutants lose function of hind limbs bilaterally between 13-18 days (mean 15.25 +/-.2 days; n=13) and die between 3 and 5 weeks of age.
A series of complementation tests was performed to show that NMF2 is an allele of Scn8a 2 matings between NMF5/+ and NMF2/+ resulted in 2 affected mice in a total of 13 progeny, and since NMF5 has been shown to be an allele of NMF58, NMF2 can also be regarded as an allele of NMF58. Recent sequencing data confirmed the allelic relationship of NMF58 and Scn8a, and therefore also those of NMF2, NMF5, and Scn8a (Mammalian Genome, 15,4, 2004). Standard pathology work-up on 4 mutants (age 18-19 days) showed no muscle atrophy or necrosis. Additional histology of hindlimb muscles showed no evidence of reinnervation/regeneration and normal neuromuscular junction morphology in all mice. One mutant had severe hydrocephaly. Standard eye histology on one mutant and one control littermate (age 16 days) showed no abnormalities. Mutants ar ..... For more information please see the full phenotype on the strain data sheet | ||
| 004105 | C57BL/6J-Scn8a5J/J | Cryopreserved - Ready for recovery |
| Mice develop bilateral hind limb paralysis between 14-22 days (average onset 16.9 +/- 2.1 days) followed by death between 3-4 weeks of age. Mutants of either gender have been produced.
A complementation test between NMF5 and C3HeB/FeJ-Scn8med-J (JR#3798) revealed that the motor phenotype of NMF5 represents a new allele of Scn8a, which encodes a type VIII voltage-gated sodium channel alpha polypeptide. Affected mice were found in each of 3 litters from heterozygote matings (NMF5 x Scn8med-J). Of the 25 mice born, 28% were affected (4/8, 1/9, 2/8, litters 1-3, respectively). Additional complementation tests showed NMF5 to be an allele of NMF58, and recent sequencing data confirmed the allelic relationship of NMF58 and Scn8a, and therefore of NMF5 and Scn8a (Mammalian Genome, 15,4, 2004).
However, we note that the retinal phenotype detected in NMF5 has not been reported for any Scn8a allele. To determine whe ..... | ||
| 004747 | C57BL/6J-nmf118/J | Cryopreserved - Ready for recovery |
| The mutants are small, show body tremor, and slightly abnormal movement of hind limbs; toes are frequently curled and the foot pads do not make proper contact with the ground. In addition, abnormal results in two phenotypic screens were observed: grip strength and auditory brainstem response (ABR). Of two mutants tested for grip strength, one showed reduced values, and of four mutants tested for ABR, two were deaf, one showed reduced hearing ability at 16 and 32 Hz, and one tested normal. These results, combined with the pathology findings, suggest that these are mutants with hearing abnormalities.
Standard pathology work-up on two mutants (110 or 150 days of age) showed degenerating muscle fibers mixed with giant fibers in the spinal muscle. A deficiency of neurons in the spiral ganglia and an absence of hair cells were noted in the ear. Standard pathology performed on a much younger mutant (36 days of age) revealed no abnormalities. View strain phenotype and additional i ..... | ||
| 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. | ||
| 001265 | CByJ.Cg-Clcn1adr-mto2J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygous mutant mice are recognizable at 2 weeks of age or earlier by prolonged, stiff extension postures of the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, although somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. Electromyographic studies revealed changes characteristic of myotonia. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis. | ||
| 003589 | D.B/20Ei-Lama2dy-6J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dystrophia-muscularis spontaneous mutations are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer myelinated axons and shorter internode length. In an att ..... | ||
| 000253 | DLS/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the dilute-lethal spontaneous mutation (Myo5ad-l) display a severe neuromuscular disorder characterized by convulsions and opisthotonus. Homozygous mutant mice usually die by approximately 3 weeks of age. Dilute lethal homozygotes lack smooth endoplasmic reticulum in the dendritic spine of Purkinje cells causing an absence of intracellular calcium. Loss of this intracellular calcium may be the cause of dilute-lethal neurological symptoms. Homozygous dilute-neurological mutant mice (Myo5ad-n, Stock No. 001013) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal homozygotes. In this DLS/Le inbred strain the dilute-lethal mutation is maintained in repulsion with short ear (Bmpse), closely linked mutations on Chromosome 9. | ||
| 006655 | FVB-Tg(ACTA1-PABPN1*A17)1Drub/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities until roughly four months of age. At four months, hemizygotes develop a time-dependent progressive muscle weakness (measured by grip strength, wire maneuver and vertical gripping tests), which leads to late onset locomoter defects around nine months of age. At nine months mice can not lift their own body weight. They drag their pelvis when walking and show reluctance to walk. There is no difference in body weight or mortality up to 15 months of age compared to controls. Hemizygotes develop KCl-insoluble inclusions containing PABPN1 in the nuclei of skeletal muscle fibers with tubulo-filamentous ultrastructures. The proportion of myocte nuclei with aggregates increases with age. Significantly elevated numbers of TUNEL-positive myocyte nuclei can be found at six and 12 months. TUNEL staining is widely used as a cell-death marker in muscle disease ..... 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 | ||
| 011033 | FVB.129S4(B6)-Scn4atm1.1Ljh/J | Cryopreserved - Ready for recovery |
| Most homozygous mice die before 30 days, although a few live longer. Homozygotes appear smaller, have difficulty feeding, and exhibit an accelerated myopathy characterized by increased fiber size variation and vacuolar structures within muscle fibers. Mice heterozygous for the mutation exhibit continuous myotonia of skeletal muscles, progressive age-related myopathy, reduced contractile force, delayed relaxation and potassium sensitive skeletal muscle weakness. A switch from a mixture of glycolytic and oxidative muscle fibers to an increased number of oxidative fibers is observed in multiple muscle types. The donating investigator reports that the Scn4atm1.1Ljh allele (neo out) has the same phenotype as the Scn4atm1Ljh allele (neo in) reported in Hayward et al, 2009. This mutant strain may be useful in studies of myotonia, vacuolar myopathy and hyperkalemic periodic paralysis (HyperKPP).
In an attempt to offer alleles on well-characterized ..... | ||
| 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 | ||
| 006297 | FVB.Cg-Tg(Eno2-cre)39Jme/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the Cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are available ..... | ||
| 010788 | FVB;129S6-Sncatm1Nbm Tg(SNCA*A30P)1Nbm Tg(SNCA*A30P)2Nbm/J | Cryopreserved - Ready for recovery |
| These double transgenic homozygous mice (dbl-PAC-Tg(SNCAA30P);Snca-/- mice) are viable and fertile, harboring a Snca knockout allele and two independently inserted transgenes encoding the human A30P-mutant α-synuclein associated with autosomal dominant Parkinson's disease. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by α-synuclein*A30P from the PAC-Tg(SNCAA30P). Because PAC-Tg(SNCAA30P) line 1 inserted on the X chromosome and line 2 inserted on a somatic chromosome, homozygous females have four total insertions and homozygous males have three total insertions. While brain RNA expression of SNCAA30P is more than 10-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCAA30P are ~80-fold greater than normal endogenous mouse α-synuclein. ..... For more information please see the full phenotype on the strain data sheet | ||
| 000300 | MYD/Le-Os +/+ Largemyd/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 008581 | STOCK Largemyd-3J/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the myodystrophy 3 Jackson mutation generally begin to display evidence of muscle degeneration at two to three months of age, although some exhibit symptoms as early as wean age. Inability to splay the hind legs outward when held up by the tail is an initial phenotype and this progresses with age to include swaying gait then dragging of the hind legs. Homozyogtes also display retinoschisis and males are sterile. | ||
| 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): | ||
| 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. | ||
| 007577 | STOCK Tg(Gt(ROSA)26Sor-BCHE*G117H)837Loc/J | Cryopreserved - Ready for recovery |
| Transgenic "G117H BChE" mice are viable and fertile. These mice express a mutant form of human butyrylcholinesterase (BCHE or BChE), harboring a single amino acid change at codon 117 (His for Gly), under the control of the ROSA26 promoter. This mutation has the unusual ability to hydrolyze organophosphorus toxicants (OP), as well as acetylcholine and is resistant to inhibition by OP. All tested tissues show G117H BChE enzymatic activity. In the founder mice and immediate offspring, plasma concentrations of the mutant protein are approximately 25% of endogenous wildtype mouse BChe. No reported abnormalities result from BChE overexpression in homozygous mutant mice. Transgenic mice injected with the OP echothiophate are protected from the severe toxicity and lethality observed in wildtype controls. This is the first transgenic mouse strain that expresses human BChE as well as the first mammal with hereditary OP resistance. These G117H BChE transgenic mice may be useful for biodefe ..... For more information please see the full phenotype on the strain data sheet | ||
| 000939 | SWR/J-Clcn1adr-mto/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygotes are recognizable at 2 weeks of age or earlier by prolonged, stiff extension postures of the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, although somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. Electromyographic studies revealed changes characteristic of myotonia. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis. | ||
| 005350 | B6.CAST(Cg)-Largevls/Pjn | Research Strain |
| Mice homozygous for the veils (Largevls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer. (Lee Y, et al., 2005) | ||
| 006514 | B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)108Cx/Cx | Research Strain |
| 006513 | B6.Cg-Ighmbp2nmd-2J Tg(Ttn-Ighmbp2)45Cx/Cx | Research Strain |
| 003834 | B6.Cg-Tg(Eno2-Ighmbp2)90Cx Ighmbp2nmd-2J/Cx | Research Strain |
| Mice hemizygous for the transgene are viable and fertile. RT-PCR analysis indicates that transgene expression is limited to the central nervous system including forebrain, cerebellum and spinal cord. The presence of the transgene rescues the neuromuscular degeneration exhibited by nmd-2J mice. These mice have no obvious phenotype. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease. | ||
| 003833 | B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2nmd-2J/Cx | Research Strain |
| Mice hemizygous for the transgene are viable and fertile. RT-PCR analysis indicates that transgene expression is limited to the central nervous system including forebrain, cerebellum and spinal cord. The presence of the transgene rescues the neuromuscular degeneration exhibited by nmd-2J mice. These mice have no obvious phenotype. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease. | ||
| 017540 | B6;CAST-GarsNmf249/JRwb | Research Strain |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for GarsNmf249 entry. Mutant mice are smaller than their littermates and develop an unsteady gait about 3 weeks of age (average 3.5weeks of age +/-0.5, n=22). The mice fail to thrive and die between 4-8 weeks of age. Males and females are affected and do not live long enough to mate normally. Although the NMF249 mutation arose in an ENU mutagenized family, it is most likely a spontaneous mutation. The parents showed no overt phenotype and produced only 1 affected mouse in a total of 24 progeny. However, when this animal was mated to a wild-type male (using ovarian transplants), half the offspring was affected, suggesting that a spontaneous dominant mutation may have occurred. Ratios from subsequent matings are consistent with a fully penetrant dominant mutation. In vitro fertilization was attempted using s ..... | ||
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