Search Criteria: Research Area is "Neurobiology Research: Ataxia (Movement) Defects"
Strains from the Research Colonies of Jackson Laboratory Scientists
New Strains Under Development
| Stock Number |
Strain Name Phenotype |
Standard Supply |
| 002810 | B6CBA-Tg(HDexon1)62Gpb/1J | Level 3 |
| This line is transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 9 and 11 weeks. Commonly known as the "R6/2" strain. Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cells develop
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| 006494 | B6CBA-Tg(HDexon1)62Gpb/3J | Level 3 |
| This line is transgenic for the 5' end of the human HD gene carrying less than (CAG)150 repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 9 and 11 weeks. Commonly known as the "R6/2" strain. Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cells develop
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| 002753 | 129S6/SvEvTac-Atmtm1Awb/J | Repository- Live |
| Mice homozygous for the Atmtm1Awb targeted mutation display many of the characteristics of ataxia telangiectasia, including growth retardation, neurologic dysfunction, infertility, defects in T lymphocyte maturation, and extreme sensitivity to gamma-irradiation. Most homozygotes develop thymic lymphoma between 2 and 4 months of age. Heterozygous mice display no abnormalities through eight months of age. | ||
| 004608 | B6(Cg)-Htra2mnd2/J | Repository- Live |
| 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.
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| 006257 | B6.129-Aldh5a1tm1Kmg/J | Repository- Live |
| Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and eventual status epilepticus. From 19-26 days of age, repetitive tonic-clonic seizures results in more than 95% mortality. Biochemical assays shows complete ablation of the endogenous enzymatic activity in the brains, livers, hearts, and kidneys of homozygous mutant mice. Homozygotes have increased levels of GHB and GABA in liver and brain tissues, as well as in urine. Phenotype can be rescued to varying degrees utilizing a number of both pharmacotherapeutic and gene therapeutic approaches. Although heterozygous mice have approximately 50% of the endogenous enzyme activity compared to wildtype mice, they are viable and fertile. Mice with this targeted mutation may be useful in studying succinate semialdehyde dehydrogenase (SSADH) deficiency and to explore the effect of GABA and GHB accumulation on central nervous system development and function. | ||
| 004146 | B6.129-Tg(Pcp2-cre)2Mpin/J | Repository- Live |
| These transgenic mice express a cre gene inserted into exon 4 of a Pcp2 gene. Mice homozygous for the insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Recombinase activity is observed in most Purkinje cells and some retinal bipolar neurons. Small amounts of activity are observed in an unidentified population of cells of the central nervous system tissue. Recombination is first observed around postnatal day 6 and is fully established 2 to 3 weeks after birth. | ||
| 003890 | B6.129P2(C)-Mecp2tm1.1Bird/J | Repository- Live |
| Homozygous null mice are viable and appear normal at birth. No Mecp2 gene product (mRNA or protein) is detected in tissues. Mobility problems are apparent at 3-8 weeks of age. Mice exhibit hindlimb clasping and uneven breathing. An uneven wearing of teeth associated with misalignment of the jaws is observed in 50% of the animals. Adult males do not mate and their testes remain internal although sperm are present in the cauda epididymis. Symptom progression is variable, but mice can be expected to undergo weight loss, shivering, continued mobility problems before succumbing. Expected lifespan is about 50-60 days. Heterozygous female mice display mobility problems and hindlimb clasping starting at about 6 months, but the symptoms appear not to be progressive. This mutant mouse strain represents a model that may be useful in studies related to Rett Syndrome. Importation of this model was supported in part by the Rett Syndrome Research Foundation. | ||
| 005439 | B6.129S-Mecp2tm1Hzo/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable and fertile. A truncated gene product (protein) is detected by immunohistochemical analysis of brain tissue. By 6 weeks of age, male mutant mice begin to exhibit tremors, progressive motor dysfunction, oily disheveled fur, hypoactivity, myoclonic seizures, and kyphosis. Approximately 10% of male mutants die between 10 and 12 months of age. Heterozygous female mice exhibit a milder phenotype. All mutant male mice and 62% of female heterozygotes exhibit a repetitive clasping movement of their forelimbs and exhibit tremors. The Donating Investigator reports that the myoclonic seizures, kyphosis and reduced survival were observed in aged male mutants on a 129/SvEv genetic background. This mutant mouse strain may be useful in studies of Rett Syndrome. The Howard Hughes Medical Institute and the National Institutes of Health supported the creation of this model. Importation of this model was supported by the Rett Syndrome Rese
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| 006490 | B6.129S4-Abcb7tm1Mdf/J | Repository- Live |
| Homozygous mice are viable and fertile with no reported neurological or hematological abnormalities. These mutant mice have loxP sites flanking exons 9 and 10 of the endogenous gene. When bred to Cre recombinase expressing mice, exons 9 and 10 are deleted in the offspring dependent on the tissue specificity of the Cre recombinase expressing parent. The donating investigator reports that the null allele is not transmissible due to an effect on the extraembryonic tissues. This mutant may be useful in studying cytosolic Fe-S cluster assembly and metabolism, Friedreich ataxia, anemia, and hematopoiesis.
When bred to a strain expressing Cre recombinase in liver (see Stock No. 003574 for example), this mutant mouse strain may be useful in studies of hepatocyte iron metabolism.
When bred to a strain expressing Cre recombinase in epiblast derived cells (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 000537 | B6.BR-Agtpbp1pcd/J | Repository- Live |
| Mice homozygous for the Purkinje cell degeneration spontaneous mutation (Agtpbp1pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photor
..... For more information please see the full phenotype on the strain data sheet | ||
| 002651 | B6.C3(Cg)-Rorasg/J | Repository- Live |
| Mice homozygous for the staggerer spontaneous mutation (Rorasg) show a staggering gait, mild tremor, hypotonia, and small size. The cerebellar cortex of homozygous mutant mice is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The remaining granule cells migrate inward from the external layer prematurely and then degenerate. Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur. Staggerer mutant mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells. Kopmels et al. have reported a hyperproduction of IL1 biological activity and mRNA from LPS stimulated spleen cells of Rorasg/Rorasg mice on the C57BL/6J background relative to wild type siblings. In addition, homozygous mice exhibit an enhanced susceptibili
..... For more information please see the full phenotype on the strain data sheet | ||
| 008000 | B6.CBy-Dscamdel17/RwbJ | Repository- Live |
| Mice homozygous for this spontaneous mutation become severely uncoordinated by postnatal day 3, developing spontaneous seizures and kyphosis. On a mixed BALB/cBy and C57BL/6 background some homozygotes survive, are fertile and have a normal lifespan. On the C57BL/6 background, homozygotes exhibit a more severe phenotype and die shortly after birth. With the exception of the caudal folium of the cerebellum, the central nervous system appears normal on a gross level, however, the retinal ganglion cell layer and inner plexiform layer exhibit disorganization by postnatal day 4. Retinal amacrine cells display defects in the arborization of processes and spacing of cell bodies. This mutant mouse strain may useful in studies of the retina and the mechanism of neuronal self-avoidance. | ||
| 006865 | B6.Cg-Magtm1Rod/J | Repository- Live |
| Mice homozygous for this targeted mutation are viable and fertile. The endogenous protein had previously been thought to be necessary for myelin formation. However in the homozygous mutant the degree of myelination and its compaction are normal. Finer motor coordination abilities are significantly affected in the homozygous mutant and they exhibit a subtle intention tremor. The organization of the periaxonal region is partially impaired with the periaxonal cytoplasmic collar frequently missing in optic nerve, cervical spinal cord, and ventral roots. Later in life, beginning at 6 months, oligodendrocytes degenerate. This strain may serve as a model for some aspects of multiple sclerosis. MAG also tranduces a signal to axons. Therefore, axons in the MAG-deficient mice are smaller in calliber due to the aberrant phosphorylation of neurofilaments. MAG has also been shown to be an inhibitor of nerve regeneration. MAG-deficient mice congenic on a C57BL/6 background may exhibit substantially
..... For more information please see the full phenotype on the strain data sheet | ||
| 006471 | B6.Cg-Tg(HDexon1)61Gpb/J | Repository- Live |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In this founder line (61Gpb), as well as another similar line (62Gpb, see Stock No. 004601), the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for this 61Gpb line. These HDexon1
..... For more information please see the full phenotype on the strain data sheet | ||
| 006849 | B6;129P2-Mecp2tm2Bird/J | Repository- Live |
| These mice possess a loxP-flanked STOP cassette in intron 2 of the targeted gene on the X chromosome. Western blot and hybridization analysis confirm the absence of wildtype protein from the targeted allele. Hemizygous (Mecp2lox-Stop/y) males do not breed and develop Rett syndrome symptoms (reduced mobility, hindlimb clasping) at approximately 6 weeks of age, with death occurring at approximately 11 weeks of age. Heterozygous females are fertile until developing Rett syndrome characteristics at 4-12 months of age. This Rett syndrome-like phenotype is similar to that observed for the traditional knock-out allele (see Stock No. 003890). Cre recombinase-mediated removal of the floxed-STOP cassette restores transcription from the targeted allele and MECP2 protein activity to normal, and reverses the Rett syndrome-like neurological defects. This mutant mouse strain may be bred to a strain expressing tamoxi
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| 004200 | B6;CBACa Aw-J/A-Npr2cn-2J/J | Repository- Live |
| 003627 | B6C3-Tg(HD82Gln)81Dbo/J | Repository- Live |
| Mice expressing this transgene appear normal at birth through 1-2 months. Mice fail to gain weight, develop tremors, hypokinesis and lack coordination. They exhibit an abnormal gait and frequent hind limb clasping. Life expectancy is 5-6 months. Studies using huntingtin antibodies indicated numerous immunoreactive nuclear inclusions in multiple neuron populations. Neuritic damage is evident. | ||
| 001756 | B6C3Fe a/a-Cacng2stg/J | Repository- Live |
| Mice homozygous for the spontaneous mutation stargazer (Cacng2stg) are first recognizable at 14 days of age by their smaller body size and slightly ataxic gait. Female stargazer homozygous mutant mice are fertile, but most of the males are unable to breed. The mutation is named for the abnormal head movements resembling choreiform head tossing that is characteristic of these mice. The behavioral symptoms progressively worsen with age, but both males and females will live to over one year of age. Electrocorticographical recordings of stargazer mice reveal frequent, prolonged, generalized spike-wave cortical discharges with behavioral arrest. The abnormal brain wave patterns are similar to those seen in human beings with absence epilepsy. Waggler homozygotes (Cacng2stg-wag) manifest a less severe phenotype than stargazer homozygotes, but do display an ataxic gait and occasional seizures. In general, young stargazer mice are more healthy than waggler ho
..... For more information please see the full phenotype on the strain data sheet | ||
| 000235 | B6C3Fe a/a-Relnrl/J | Repository- Live |
| Mice homozygous for the reeler (Relnrl) mutation exhibit an ataxic gait, dystonic posture and tremors starting around 2 weeks of age. These mutants are incapable of maintaining their hindquarters upright and often fall over during locomotor activity. Moreover, viability and fertility are greatly reduced, especially when the gene is carried on an inbred genetic background. Heterozygotes are visually indistinguishable from wildtype controls. Neuropathies characteristic of Relnrl/Relnrl mutants include a failure of neuronal layer formation in laminated brain regions during development. Neuronal positioning is abnormal within cerebellar, cerebral and hippocampal cortices. The behavioral phenotype is primarily attributed to the severe hypoplasia of the cerebellum, which lacks foliation. Here, there are reduced numbers of granule and Purkinje cells and these cells are aberrantly dispersed among the layers. In the Reln-deficient neo
..... For more information please see the full phenotype on the strain data sheet | ||
| 008075 | B6CBA(FVB)-Tg(Prnp-TBP*)105Xjl/J | Repository- Live |
| These transgenic mice express a human TATA box binding protein, TBP, containing a 105 polyQ repeat expansion, under the control of the mouse prion protein promoter. The 105 polyQ-expansion is detected by Western blot analysis. At 3 months of age, hemizygous transgenic mice are smaller than wildtype littermates, appear ungroomed, exhibit kyphosis and weight loss. These transgenic mice have a shortened lifespan of 5 months and begin to die as early as 9 weeks of age. Immunohistochemical and Western blot analysis of brain tissue reveals neuronal nuclear aggregates of polyQ tracts by 8 weeks of age. Electron microscopic examination of brain tissue shows nuclear inclusions in cerebellar granule neurons and degeneration of Purkinje cells and axons. Reactive gliosis is observed in the granular and Purkinje layers. Loss of Purkinje cells is observed at 10 weeks of age. Apoptopic neurons in brain cortex and spinal cord are more abundant in transgenic mice when compared to wildtype. Early
..... For more information please see the full phenotype on the strain data sheet | ||
| 008083 | B6CBA(FVB)-Tg(Prnp-TBP*)13Xjl/J | Repository- Live |
| These transgenic mice express human TATA box binding protein, TBP, containing a 13 polyQ repeat expansion, under the control of the mouse prion protein promoter. Western blot analysis could not distinguish between endogenous and mutant TBP protein. Immunoreactive TBP protein was not detected in the brains of 4 month old mutants. Mice hemizygous for the transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of spinocerebellar ataxia 17 (SCA17) and polyglutamine (polyQ) related neurodegeneration. These mice serve as a control strain for B6CBA(FVB)-Tg(Prnp-TBP*)105Xjl/J (Stock No. 008075) and B6CBA(FVB)-Tg(Prnp-TBP*)71-16Xjl/J (Stock No. 008216). | ||
| 008216 | B6CBA(FVB)-Tg(Prnp-TBP*)71-16Xjl/J | Repository- Live |
| These transgenic mice express human TATA box binding protein,TBP, containing a 71 polyQ repeat expansion, under the control of the mouse prion protein promoter. The 71 polyQ-expansion is detected by Western blot analysis. At 6.5 months of age, hemizygous transgenic mice are smaller than wildtype littermates and appear ungroomed. These transgenic mice have a shortened lifespan of approximately 9 months and begin to die as early as 21 weeks of age. Immunohistochemical and Western blot analysis reveals visible nuclear aggregates of polyQ tracts by 15 weeks of age. Electron microscopic examination of brain tissue shows degeneration of Purkinje cells and axons. Reactive gliosis is observed in the granular and Purkinje layers. Onset of progressive locomotor impairment is 7 weeks of age. Some mice exhibit clasping, spontaneous seizures and tremors. The donating investigator has not attempted to make the strain homozygous. This transgenic strain has a less severe phenotype than B6CBA(F
..... For more information please see the full phenotype on the strain data sheet | ||
| 002044 | B6Ei.Cg-Atp7aMo-blo/J | Repository- Live |
| Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs.. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to
..... For more information please see the full phenotype on the strain data sheet | ||
| 003237 | BALB/cByJ-Agtpbp1pcd-3J/J | Repository- Live |
| Mice homozygous for the Purkinje cell degeneration 3 Jackson spontaneous mutation (pcd3J) have an external and histological phenotype that is very similar to the original Purkinje cell degeneration mutation (pcd). Homozygous pcd mutant mice show a moderate ataxia beginning at 3 to 4 weeks, are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic
..... For more information please see the full phenotype on the strain data sheet | ||
| 001592 | BALB/cByJ-Lpin1fld/J | Repository- Live |
| The original fld (fatty liver dystrophy) mutation arose spontaneously at The Jackson Laboratory in the Animal Resources BALB/cByJ colony in 1981, and was maintained by sibling mating for 47 generations, then backcrossed once in 2001 to a male BALB/cByJ via homozygous ovarian transplant, then sibling mating resumed. Homozygotes can be identified soon after birth by an enlarged, pale liver and smaller overall body size. Although the hepatic steatosis resolves to normal at wean age, a neurological phenotype manifests by day 14 as a tremor and an unsteady gait which is most pronounced in the rear legs (Sweet et al. 1988). Both phenotypes stem from improper cellular processing of lipid. fld/fld mice are smaller than their normal littermates by three days of age and remain smaller throughout life. Hair growth is retarded and abnormal resulting in a ruffled, unkempt appearance in the adult. Homozygotes experience increased mortality between 19 and 35 days of age. A
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| 008292 | BALB/cJ-Agtpbp1pcd-8J/J | Repository- Live |
| 006019 | BALB/cJ-ssl/J | Repository- Live |
| 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. | ||
| 001276 | C3H/HeJ-Atp2b2dfw/J | Repository- Live |
| Mice homozygous for the deaf waddler spontaneous mutation (Atp2b2dfw) are deaf, walk with a hesitant, wobbly gait, and bob their heads. Both sexes are fertile. | ||
| 004780 | C3H/HeJ-agil/J | Repository- Live |
| Mice homozygous for this recessive mutation are recognized by 15 days of age by their shaky, unsteady, wobbly gait. Mutants die around 3 weeks of age. The agitans-like mutation maps to Chromosome 14 between D14Mit39 and D14Mit115 which are near the neurological mouse mutation agitans (ag). The agitans mutants exhibit a similar phenotype. | ||
| 006468 | C57BL/6-Chrm1tm1Stl/J | Repository- Live |
| Homozygotes are viable and fertile with complete absence of the wildtype allele mRNA in forebrain tissues. Mice homozygous for this M1 muscarinic acetylcholine receptor deficiency have elevated dopaminergic transmission in the striatum, significantly increased locomotor activity, increased response to the stimulatory effects of amphetamine. These mutant mice may be useful in neurological studies, including the regulation of dopaminergic transmission by the M1 receptor and M1 dysfunction in psychiatric disorders. | ||
| 005349 | C57BL/6J Tyrc-2J-awag/J | Repository- Live |
| awag homozygotes have a distinct tremor when walking. When lifted by the tail these mutant mice do not splay their hind legs out as normal mice do, but instead hold their legs in a bowlegged umbrella manner and arch their backs. Both sexes breed and live a normal life span. | ||
| 007892 | C57BL/6J-Relnrl-7J/J | Repository- Live |
| 004625 | C57BLKS/J-Car8wdl/J | Repository- Live |
| wdl homozygotes display a side-to-side wobble in their gait as early as two weeks of age and this persists throughout life. Despite this, they can swim in a straight line. | ||
| 002718 | CByJ.Cg-hop/J | Repository- Live |
| Mice homozygous for the hop-sterile spontaneous mutation (hop) are viable, females are fertile but males are sterile. Homozygous mutant mice walk with a characteristic hopping gait using the hindlegs simultaneously. There is preaxial polydactyly of both fore- and hindfeet. Defects in spermatogenesis result in abnormal sperm tail development. Tailed sperm are completely absent from the lumen of the testicular tubules. The second meiotic division is frequently abnormal or incomplete, often leaving four centrioles per cell. These centrioles usually fail to form flagella, and tail development is arrested. | ||
| 004938 | FVB-Tg(YAC128)53Hay/J | Repository- Live |
| These transgenic mice express the human huntingtin protein containing a 128 CAG repeat expansion. Human huntingtin mRNA and protein is detected. Hyperkinesis begins at 3 months of age with progressive motor impairment appearing at 6 months of age. This is followed by progressive neurodegeneration, starting at 9 months of age, and hypokinesis at 12 months. The motor dysfunction, Rotorod deficit, is correlated with neuronal loss. Mutants exhibit decreased brain weight and reduced striatal and cortical volumes. 18% shrinkage of striatal neurons is observed in 12 month old mutants. A significant decrease (15%) in the number of striatal neurons occurs by 12 months of age. Nuclear huntingtin aggregate inclusions of striatal neurons from 18 month old mutant mice are detected at the light microscopy level. This mutant mouse strain represents a model that may be useful in studies of Huntington's disease. | ||
| 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 | ||
| 007247 | FVB/N-Tg(YAC353G6)W7Hay/J | Repository- Live |
| These transgenic mice express the human huntingtin protein containing a 133 CAG repeat expansion and a mutation in exon 13 conferring resistance to caspase-6 cleavage to the gene product.
Expected caspase-6 cleaved fragments are not detected in brain lysates by Western blot analysis. Transgenic mice have brain weight and striatal volume similar to wildtype controls and do not exhibit neuronal loss at 12 months of age when compared to transgenic mice that express human huntingtin protein containing a 128 CAG repeat (FVB-Tg(YAC128)53Hay/J Stock No. 004938). These transgenic mice have activity levels and motor function similar to wildtype controls, and are resistant to neuron excitotoxicity. Immunohistochemical analysis of striatal brain sections reveals delayed nuclear localization of mutant huntingtin protein in these transgenic mice at 9 months of age. Between 9 and 12 months of age, an increase of nuclear huntingtin is observed. Homozygotes are viable, fertile, normal in size a
..... For more information please see the full phenotype on the strain data sheet | ||
| 003925 | MRL.129P2(B6)-B2mtm1Unc/Dcr-Dab1scm-2J/J | Repository- Live |
| See Stock No. 000486 for important information on the MRL/MpJ background. | ||
| 002043 | STOCK A/A-Dab1scm/J | Repository- Live |
| Mice homozygous for the scrambler spontaneous mutation (Dab1scm) are recognized by an unstable gait and whole-body tremor. The cerebella of 30-day-old scrambler homozygotes are hypoplastic and devoid of folia; however, neither seizures nor abnormal brain wave patterns have been observed. Scrambler is similar to the reeler mutation in phenotype and pathology and, like reeler, probably results from defective neuronal migration. Female homozygotes mate and breed. Homozygous scrambler mutants have an ataxic gait which in the male may be contributory factor in the failure to mate. Normal life span for both sexes. | ||
| 003486 | 129-Cstbtm1Rm/J | Repository-Cryopreserved |
| The progressive myoclonus epilepsies (PMEs) types are diseases characterized by tonic-clonic seizures, myoclonic seizures and progressive neurological dysfunction, including dementia and ataxia. Mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in one of these human diseases. Specifically, this mouse is a model of Unverricht-Lundborg disease (EPM1).Strain background has an effect on phenotype. | ||
| 003117 | 129S-Ssttm1Ute/J | Repository-Cryopreserved |
| Mutant mice are healthy, fertile and of normal body size despite having three times the plasma growth hormone levels than wildtype littermates. Somatostatin is virtually absent in the adult cerebellum but is expressed during development. There is impaired motor learning and motor coordination as demonstrated in accelerating rotorod testing. | ||
| 005098 | A.B6 Tyr+-Spnb4qv-7J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Spnb4qv-7J entry. | ||
| 005012 | A.B6 Tyr+-Myo5ad-l31J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page. | ||
| 003906 | AK.B6-Cln8mnd/J | Repository-Cryopreserved |
| 000593 | B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J | Repository-Cryopreserved |
| Mice homozygous for the MitfMi spontaneous mutation are characterized by decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. | ||
| 000502 | B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J | Repository-Cryopreserved |
| 004835 | B6 x B6JCu.Cg-wl/J | Repository-Cryopreserved |
| Homozygous wabbler-lethal mice are first recognizable at 12 days of age and usually die at about 4 weeks. They have an abnormal wobbly gait and a pronounced tremor when walking. | ||
| 002440 | B6 x BALB/cByJ-Grid2Lc-J/J | Repository-Cryopreserved |
| 002533 | B6 x BALB/cByJ-Lpin1fld/J | Repository-Cryopreserved |
| 003602 | B6 x STOCK Cln6nclf-Edardl-3J/J | Repository-Cryopreserved |
| 000938 | B6 x STOCK Epha4rb/J | Repository-Cryopreserved |
| 003079 | B6.129-Calb1tm1Mpin/J | Repository-Cryopreserved |
| Mice homozygous for the Calb1tm1Mpin targeted mutation are viable and fertile. Homozygous mutant mice show severe impairment in tests of motor coordination and exhibit ataxia when challenged on a runway. These results suggest functional deficits in cerebellar pathways. Confocal calcium imaging of cerebellar Purkinje cells reveals marked changes of synaptically-evoked postsynaptic calcium transients. | ||
| 004098 | B6.129-Klc1tm1Gsn/J | Repository-Cryopreserved |
| The donating investigator indicates that mice that are homozygous for the targeted allele on a C57BL/6 genetic background exhibit significant perinatal mortality (60%). Mortality seems not to be a factor on a mixed B6;129 background. Surviving mice are noticeably smaller than wildtype mice. Mice surviving to adulthood breed poorly, possibly due to less than adequate nurturing capabilities. Minor amounts of a functionless, truncated protein product can be detected. Motor defects are evident, as are alterations in intracellular localization of kinesin-I and COP-I components. | ||
| 004751 | B6.129P2-Ugt8atm1Pop/J | Repository-Cryopreserved |
| 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 | ||
| 005601 | B6.129S-Atxn1tm1Hzo/J | Repository-Cryopreserved |
| Mice that are heterozygous for the targeted mutation are viable but have a reduced lifespan (34-40 weeks). The allele consists of a 154 CAG trinucleotide repeat unit placed within exon 8 of the targeted endogenous mouse locus. Modified transcripts and protein can be detected in brain tissue. By 8 weeks of age, mutant mice exhibit noticeable growth retardation. Progressive neurological degeneration initiates by 9 weeks of age, when mutant mice begin to exhibit a clasping phenotype when held by the tail. By 20 weeks of age muscle wasting, ataxia and an abnormal gait are observed. A lack of motor coordination is detected via an accelerating rotarod test by 5 to 7 weeks. Cognitive defects include poor spatial learning performance and reduced Pavlovian conditioned fear response (impaired memory). Hippocampal basal synaptic function is impaired. Immunohistochemical and immunofluorescent analysis of brain tissue reveals neuronal intranuclear inclusions by 6 weeks of age. Older animals exhibit
..... For more information please see the full phenotype on the strain data sheet | ||
| 002275 | B6.129S4-Ntf3tm1Jae/J | Repository-Cryopreserved |
| Mice homozygous for the Ntf3tm1Jae targeted mutation are smaller than their normal littermates and most die shortly after birth. Survivors die prior to weaning. They display limb ataxia, an inability to position the limbs properly when attempting to move, and there is a tendency for all four limbs to intermittently stiffen in an extensor posture. Autopsy showed all peripheral ganglia markedly smaller in the mutant. Spinal proprioceptive afferents and their peripheral sense organs are completely absent. Heterozygous mice appear normal; however, the number of muscle spindles in heterozygotes is half that of normal wildtype siblings. There is approximately a 50% reduction in the sympathetic superior cervical ganglion (SCG) neurons caused by excessive apoptosis of sympathetic neuroblasts during neurogenesis. | ||
| 003541 | B6.129S4-Ntf3tm2Jae/J | Repository-Cryopreserved |
| This strain has loxP sites located on either side of the Ntf3 exon 2. Mice homozygous for this allele are viable, fertile and without behavioral abnormalities. If this strain is crossed with a transgenic strain bearing Cre recombinase, expression of the Ntf3 gene in offspring can be blocked in a tissue-specific manner depending on the promoter controlling the recombinase. Strains under the control of the rat nestin promoter block expression in the central nervous system; see strains 002275 and 002276. | ||
| 001772 | B6.C3-stu/J | Repository-Cryopreserved |
| Mice homozygous for the stumbler spontaneous mutation (stu) have clinical features suggesting a cerebellar defect. They can be recognized at 12 days of age by a stumbling locomotion characterized by a high-stepping broad-based gait. Homozygous mutant mice become less active with age and progressively smaller than their normal sibs and usually die before weaning. There are fewer than normal Purkinje cells and granule cells from about 10 days of age onward and a consequent smaller size of the cerebellum. The Purkinje cells have small dendritic arborizations and immature spines on their somata. They also have an increased number of mitochondrial profiles both in cell bodies and in swellings on dendrites. The morphology of the granule cells appears normal. | ||
| 002560 | B6.Cg-Aarssti/J | Repository-Cryopreserved |
| Mice homozygous for this spontaneous mutation exhibit a rough, sticky coat, progressive ataxia and Purkinje cell degeneration. Cerebellar Purkinje cell loss is first observed by three weeks of age becomes extensive by six weeks of age and continues to progress slowly over the course of a year. This mutant mouse strain may be useful in studies related to neurodegeneration, protein misfolding and aberrant transfer RNAs. | ||
| 000535 | B6.Cg-Atp7aMo-blo/J | Repository-Cryopreserved |
| Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to 6
..... For more information please see the full phenotype on the strain data sheet | ||
| 003605 | B6.Cg-Cln6nclf/J | Repository-Cryopreserved |
| 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. | ||
| 002491 | B6.Cg-Largeenr-Tg(MpbReg)36Pop/J | Repository-Cryopreserved |
| The enervated (enrTg(MbpReg)36Pop) mutation resulted from random insertion into a gene of unknown function of a transgene comprising approximately 120 tandem copies of a 1.3 kb segment of the upstream regulatory region of the myelin basic protein gene (Mbp), ending 50 bp upstream of the transcription initiation codon (Kelly et al. 1994). Homozygous mutant mice are characterized by a gait abnormality, stiffened and/or splayed hind legs, and a hunched posture with some exhibiting kyphosis of the thoracic spine. These symptoms progress gradually to severe motor dysfunction. Skeletal muscles show necrosis and phagocytosis. Interactions between Schwann cells and axons are also disrupted. Although many peripheral axons are well myelinated, the nerve and nerve roots contain very large bundles of juxtaposed, bare axons, reminiscent of Schwann cell-axon interactions in early development. Nerve regeneration following injury is also impaired in homozyous mutant mice. Ther
..... For more information please see the full phenotype on the strain data sheet | ||
| 000566 | B6.Cg-Os +/+ Cacna1atg-la/J | Repository-Cryopreserved |
| Mice homozygous for the leaner spontaneous mutation (Cacna1atg-la) begin to show ataxia, stiffness, and retarded motor activity by 8 to 10 days of age. Many homozygous mutant mice die by weaning age, but some survive, and females may even breed. Homozygous mutant adults are characterized by instability of the trunk and hypertonia of the trunk and limb muscles. Seizures have not been observed. The cerebellum is reduced in size, particularly in the anterior region. There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Leaner/tottering heterozygotes (Cacna1atg-la/Cacna1atg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days, they develop a wobbly gait and intermittent focal seizures which continue throughout life. The cerebellum shows shrinkage and degenerative changes of the Purkinje cells. | ||
| 000285 | B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J | Repository-Cryopreserved |
| Mice homozygous for the staggerer spontaneous mutation (Rorasg) show a staggering gait, mild tremor, hypotonia, and small size. The cerebellar cortex of homozygous mutant mice is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The remaining granule cells migrate inward from the external layer prematurely and then degenerate. Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur. Staggerer mutant mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells. Kopmels et al. have reported a hyperproduction of IL1 biological activity and mRNA from LPS stimulated spleen cells of Rorasg/Rorasg mice on the C57BL/6J background relative to wild type siblings.
In this congenic strain the staggerer mutation is maintain
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| 000518 | B6.Cg-Usp14ax-J/J | Repository-Cryopreserved |
| 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 | ||
| 000544 | B6.D2-Cacna1atg/J | Repository-Cryopreserved |
| Mice homozygous for the tottering spontaneous mutation (Cacna1atg) are characterized by a wobbly gait beginning at around 3 to 4 weeks of age and affecting, particularly, the hindquarters and by intermittent, spontaneous seizures. The seizures are of two kinds: i) Sudden arrests of movement (behavioral absence seizures) begin at about 3 weeks and are accompanied by abnormal bursts of bilaterally synchronous spike waves in ECG; they last about 0.3 to 10 seconds, occur hundreds of times per day, and continue throughout life; ii) Stereotyped partial motor seizures begin at about 4 weeks and are accompanied by abnormal ECG activity; they last 20 to 30 minutes, occur once or twice a day, and persist throughout life. Homozygous mutant mice of both sexes are fertile, but breeding performance is poor. Leaner/tottering heterozygotes (Cacna1atg-la/Cacna1atg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few
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| 003799 | B6.D2-Scn8amed-jo/J | Repository-Cryopreserved |
| 001612 | B6.KB2-Cln8mnd/MsrJ | Repository-Cryopreserved |
| 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
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| 001883 | B6.MRL-Cacng2stg-wag/J | Repository-Cryopreserved |
| 003012 | B6.SJL-Slc9a1swe/J | Repository-Cryopreserved |
| Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem. | ||
| 005048 | B6;129-nmf291/J | Repository-Cryopreserved |
| By approximately 11 weeks of age mice homozygous for this ENU-induced mutation develop splayed hind feet, a lumbering gait, and jump into the air intermittently. The phenotype progresses to include spasms of the hind and front limbs that can result in falling over. Both female and male homozygotes breed, but the reproductive window is shortened by the progressive physical impairments. For additional information on nmf291 view the web page on the Neuroscience Mutagenesis Facility web site. | ||
| 003120 | B6;129S7-L1camtm1Sor/J | Repository-Cryopreserved |
| The L1 gene is localized to the X chromosome. As a result, hemizygous males are affected and the mutation has to be propagated through females. Male mice hemizygous for the L1camtm1Sor targeted mutation have defects in the guidance of axons of the corticospinal tract. A substantial proportion of axons do not take their normal crossed course to the dorsal column at the pyramidal decussation. There is also a varying, but reduced number of corticospinal axons in the dorsal columns of the spinal cord. | ||
| 003892 | B6;BKS-Atp2b2dfw-3J/J | Repository-Cryopreserved |
| 005520 | B6;CByJ-Cacna1atg-6J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Cacna1atg-6J entry. | ||
| 005050 | B6;CByJ-Cacna2d2du-3J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf299 entry. | ||
| 005463 | B6;CByJ-Scn8a7J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Scn8a7J entry. | ||
| 005751 | B6;CByJ-nmf419/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf419 entry. | ||
| 004360 | B6;SJL-Tg(HD)63Aron/J | Repository-Cryopreserved |
| These transgenic mice express the initial N-terminal third of the mutant human huntingtin gene (IT15) under the direction of the rat neuron-specific enolase promoter. Expected transgene expression was confirmed by Northern blot, RT-PCR and Western blot analysis. Mice heterozygous for the transgene have a phenotype mimicking much of the morphological and subcellular neuropathology that occurs in the striatum and cortex in human Huntington's disease. Behavioral abnormalities are varible in onset and intensity, beginning between 3 to 6 months of age. Transgenic mice exhibit increased levels of nuclear and cytoplasmic huntingtin and dysmorphic dendrites in the striatum and cortex. Electron microscopic analysis of nuclear inclusions of cortical and striatal neurons detects granular and filamentous structures that appear to be similar to structures seen in brain affected by Huntington's disease. Cortical stimulation and N-methyl-D-aspartate (NMDA) receptor activation produces abnormal electr
..... For more information please see the full phenotype on the strain data sheet | ||
| 000224 | B6C3Fe a/a-Scyl1mdf/J | Repository-Cryopreserved |
| 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. | ||
| 001037 | B6C3Fe a/a-Agtpbp1pcd/J | Repository-Cryopreserved |
| Mice homozygous for the Purkinje cell degeneration spontaneous mutation (pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photoreceptor cells proc
..... For more information please see the full phenotype on the strain data sheet | ||
| 000304 | B6C3Fe a/a-Krt71Ca Scn8amed-J/J | Repository-Cryopreserved |
| 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. | ||
| 001035 | B6C3Fe a/a-Napahyh/J | Repository-Cryopreserved |
| Although no overt phenotype is appearant in newborn hyh mice, they have dilated lateral ventricles. By 2 weeks of age, an outward phenotype of a domed head and a hop gait is apparent. Dissection and histological examination reveal "hydrocephalus of lateral and third ventricles and of the caudal aspects of the cerebreal aquiduct" increasing in severity with age (Bronson et al., 1990). Homozygotes have a decreased lifespan usually dying before 2 months of age. Some homozygotes will live for several months, but usually will not breed. | ||
| 000237 | B6C3Fe a/a-Rorasg/J | Repository-Cryopreserved |
| Mice homozygous for the staggerer spontaneous mutation (Rorasg) show a staggering gait, mild tremor, hypotonia, and small size. The cerebellar cortex of homozygous mutant mice is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The remaining granule cells migrate inward from the external layer prematurely and then degenerate. Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur. Staggerer mutant mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells. Kopmels et al. have reported a hyperproduction of IL1 biological activity and mRNA from LPS stimulated spleen cells of Rorasg/Rorasg mice on the C57BL/6J background relative to wild type siblings. | ||
| 001607 | B6C3Fe a/a-Unc5crcm/J | Repository-Cryopreserved |
| The cerebellum of mice homozygous for the rostral cerebellar malformation spontaneous mutation (Unc5crcm) is smaller with fewer folia, there are ectopic cerebellar cells in the midbrain, and abnormal neuronal migration. Homozygous mutant mice are ataxic and experience growth retardation early in life. Homozygous males usually do not breed. | ||
| 000243 | B6C3Fe a/a-Wnt1sw/J | Repository-Cryopreserved |
| Mice homozygous for the swaying spontaneous mutation (Wnt1sw) sway to one side or the other when attempting to move and may then pivot clockwise or counterclockwise around their rear legs. Homozygous mutant mice display marked ataxia and hypertonia that is probably attributable to malformations of the anterior vermis of the cerebellum and of the colliculi. The cerebellum is divided on the midline by a deep dorsal sagittal fissure extending from the leptomeninges down to the level of the fourth ventricle. The probable cause is failure of the midline fusion of the cerebellum. | ||
| 000624 | B6C3Fe a/a-anx/J | Repository-Cryopreserved |
| Compared with their wildtype siblings, anx/anx homozygotes are characterized by a thinning in the neck and tail at 5 days of age, lower body weight detectable by 9 days of age, and death by 22 days of age on the B6C3H-a/a background. Outbreeding to CAST/Ei modifies the phenotype such that homozygotes live to approximately 5 weeks of age. Evaluation of stomach content shows that anx/anx mice ingest less than their siblings. They show headweaving, body tremors, uncoordinated gait, and hyperactivity along with diminished adipose tissue and reduced serum leptin levels. (Maltais et al., 1984; Johansen et al., 2000)
Intraperitoneal injection of 20 day old pups with 5,7-dihydroxytryptamine, a seratonin antagonist, reduces the severity of the neurological phenotypes. Homozygotes have extensive serotonergic hyperinnervation in normal target fields including the hippocampus, frontal cortex, olfactory bulb, and cerebellum, yet they have normal catecholamine
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| 002339 | B6C3Fe a/a-nma/J | Repository-Cryopreserved |
| nma arose spontaneously in 1985 on the CBA/J inbred strain at The Jackson Laboratory. From the age of 12 days, mice homozygous for nma are smaller than their normal littermates, weighing 50% less. They exhibit an abnormal gait, in which the hind legs extend past the front legs, and hind limb weakness that causes the mice to fall to the side. When sitting, nma/nma mice overextend their rear legs and prop themselves up in the shavings or against the cage wall. When picked up by the tail, homozygotes extend their rear legs briefly, then clasp their hind feet. They cannot orient themselves in water and spiral to the bottom of the tank. nma/nma mice survive only a few days past weaning, even with food and water made readily available. Heterozygotes appear normal behaviorally, histologically and biochemically. Examination of serial sections through the entire brain revealed no abnormalities. The spinal cord motor neurons, spinal roots, ganglia and nerves were
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| 001055 | B6C3Fe a/a-tip/J | Repository-Cryopreserved |
| Mice homozygous for the tippy spontaneous mutation (tip) are small, hyperactive, cannot stand or walk without falling over, and die by 20 to 25 days of age. | ||
| 002809 | B6CBA-Tg(HDexon1)61Gpb/1J | Repository-Cryopreserved |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In both the 61Gpb and 62Gpb founder lines, the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for the 61Gpb line and between 9 and 11 weeks for the 62Gpb line. | ||
| 001046 | B6CBACa Aw-J/A-Grid2Lc/J | Repository-Cryopreserved |
| Mice heterozygous for the lurcher spontaneous mutation (GridLc) show a characteristic swaying of the hindquarters and a jerky up and down movement. They are identifiable with sureness by their behavior at 12 to 14 days of age. Homozygous mutant micedie shortly after birth but have no visible abnormalities and show severe postnatal loss of Purkinje cells and granule cells. Virtually no Purkinje cells are found in adults and granule cells are reduced to about 10% of normal. The number of neurons in the inferior olivary nucleus falls to about 25% of normal. Other cell populations are normal. The Lc mutation induces apoptotic programmed death of the cerebellar cortical Purkinje cells. Homozygous mutant mice are reproducibly deficient in defined cell populations and thus have been used to study cerebellar function and the distribution of various brain components on cerebellar cells. | ||
| 000247 | B6CBACa Aw-J/A-Kcnj6wv/J | Repository-Cryopreserved |
| Mice homozygous for the weaver spontaneous mutation (Kcnj6wv) are recognizable in the second postnatal week by their small size, instability of gait, weakness, and hypotonia. Many homozygous mutant mice die at weaning age, but some survive to adulthood, and females may breed. The cerebellum in homozygous mutants is very small, simple, and almost devoid of granule cells, which degenerate during the second week. Heterozygotes behave normally, but they have a smaller than normal cerebellum with a deficiency of granule cells, some of which fail to migrate into the internal granule layer and remain scattered in the molecular layer. Evidence from cultures of mutant and normal cerebellum show that granule cells of Kcnj6wv/Kcnj6wv and Kcnj6wv/+ mice have gene-dosage dependent abnormalities in morphology and cell behavior. Studies using homozygous weaver/wildtype chimeras indicate that the migration defect of granule cells
..... For more information please see the full phenotype on the strain data sheet | ||
| 003811 | B6D2-Tg(Pcp2SCA2)11Plt/J | Repository-Cryopreserved |
| These transgenic mice express the human SCA2 gene under the direction of the mouse Pcp2 promoter. Homozygous mice are viable and fertile. Transcripts and protein product are detected in the cerebellum. Immunohistochemical analysis indicates that the protein product is localized to the cytoplasm. Progressive functional deficits are evident as early as eight weeks of age as measured by hind leg clasping and stride length. Also noted is a dramatic loss of Purkinje cell arbor followed by a progressive decrease in Purkinje cell number. By 24-27 weeks, the number of Purkinje cells is reduced by approximately 50%. | ||
| 000504 | B6EiC3Sn a/A-Cacnb4lh/J | Repository-Cryopreserved |
| Mice homozygous for the lethargic spontaneous mutation (Cacnb4lh) are first recognizable at 15 days by their lethargic behavior with gait instability and occasional seizures. The seizures resemble human petit mal seizures. No pathological changes were found in the CNS or in skeletal muscles, but peripheral motor nerves show reduced conduction velocity and prolonged distal latency. There is early thymic involution at 3 to 4 weeks in Cacnb4lh homozygotes, accompanied by decreased lymphocyte count, decreased cell-mediated immunity, and increased levels of serum IgG1. The defects in the immune system tend to disappear by 2 months of age in mice that survive. In addition to neurological and immunological defects, homozygous lethargic mice show pituitary-adrenal hypercorticism. Homozygotes are smaller and weaker than their normal littermates and often die before 2 months old. Survivors of both sexes may breed, but their reproductivity is low. | ||
| 002088 | BALB/cByJ-Herc2J/J | Repository-Cryopreserved |
| Herc2J, Jackson; spontaneous; recessive: Arose spontaneously on a BALB/cJ background. Homozygous mutants are smaller than littermates and have a subtle tremor that is recognizable by 2.5 to 3 weeks of age. The visible tremor is not progressive with age. Males are functionally sterile and have reduced sperm numbers and sperm abnormalities similar to those seen in mice with the pink-eyed dilution deletion alleles, Herc2p-bs, Herc2p-6H, and Herc2p-25H. In vitro fertilization was not attempted. Females have poor fertility but ovaries are functional when transplanted into histocompatible hosts. Ovaries may exhibit fewer and smaller copora lutea based on limited sample. Herc2J was allele tested with Herc2p-6H/Herc2p-cp and with Herc2PJ/Herc2P-bs and found to be allelic with Herc2p-6H and Herc2p-bs
..... For more information please see the full phenotype on the strain data sheet | ||
| 003756 | BALB/cByJ-nr/J | Repository-Cryopreserved |
| On the BALB/cByJ background nervous homozygotes have a delayed expression of the mutant phenotype relative to that on the C3HeB/FeJ background (see Stock No. 000229). At 8 to 9 weeks of age homozygotes have a ruffled and disheveled appearance and are slightly smaller than their affected littermates. They are ataxic, having an unsteady gait particularly in the hindquarters, but do not display tremors. They are more active than their littermates. Males and females are affected equally and have a normal lifespan. These mice are good breeders with few non-productive matings. A cross between C3Fe.CGr(Cg)-nr/J homozygotes and BALB/cByJ-nr/J homozygotes produced compound heterozygotes most of which presented with the nervous phenotype by 4 weeks of age, although some had onset delayed as much as to 7 weeks of age (Giggey and Thompson, 2005). There is a 90% loss of Purkinje cells between 23 and 50 days in homozygous mu
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| 001049 | BKS.Cg-mea2J m/+ +/J | Repository-Cryopreserved |
| Mice homozygous for the meander tail 2J spontaneous mutation (mea2J) have a phenotype that is very similar to the original meander tail (mea) and meander tail J mice (meaJ). Homozygous mutant mice have variably shortened and kinked tails. At about 2 weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygotes are smaller and less vigorous than wiltype controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This strain is maintained in linkage with the misty coat color mutation (m). | ||
| 001192 | BKS.Cg-meaJ Leprdb +/+ + m/J | Repository-Cryopreserved |
| Mice homozygous for the meander tail-J spontaneous mutation (meaJ) have variably shortened and kinked tails. At about 2 weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygous mutant mice are smaller and less vigorous than wiltype controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This mutation occurred in the BKS.Cg-Leprdb +/+ m strain so it is also segregating for the diabetes (Leprdb) and misty (m) mutations. See strain description for BKS.Cg-Leprdb +/+ m (Stock No. 000642) for more information. | ||
| 005494 | C3.129S1(B6)-Grm1rcw/J | Repository-Cryopreserved |
| Visibly, Grm1rcw/Grm1rcw mice are identifiable by 2.5 - 3 weeks of age. Their constant wobbly gait frequently throws them off balance, but only briefly, as they show immediate and normal righting response. When walking, they often brace for balance with their fore- and hindfeet extended forward or sideways. Their heads lurch mildly and the mutants often sit on their haunches when motion falters. Their forefeet show normal grip strength when the mutant mice are pulled gently backwards over a cage cover. When picked up by the tail, they may clasp their hindfeet. However, they show sufficient hindlimb strength to prevent their falling when placed on an edge. Mutants live through adulthood, and mice of both sexes breed. Grm1rcw has been mapped between the flanking markers D10Mit49, at map position 6.3 Mb and D10Mit80, at map position 11.4 Mb. | ||
| 000229 | C3Fe.CGr(Cg)-nr/J | Repository-Cryopreserved |
| Nervous homozygotes on this C3HeB/FeJ congenic background display a mutant phenotype by 3 to 4 weeks of age, much earlier than on the BALB/cByJ background (see Stock No. 003756). Because this earlier onset occurs at wean age, the affected pups may have to stay with the mother an extra week or two. Homozygotes are somewhat smaller than their littermates and are ataxic with a slight head bobbing motion but do not display tremors. They often fall over on their side and have a sort of backwards lurching movement. They have a tendency to look up and are hyperactive compared to their littermates. Males and females are equally affected and have a normal lifespan. They are poor breeders with a higher than normal incidence of non-productive matings. A cross between C3Fe.CGr(Cg)-nr/J homozygotes and BALB/cByJ-nr/J homozygotes produced compound heterozygotes most of which presented with the nervous phenotype by 4 weeks of age,
..... For more information please see the full phenotype on the strain data sheet | ||
| 003798 | C3Fe.Cg-Scn8amed/J | Repository-Cryopreserved |
| 000638 | C3FeB6 A/Aw-J-Spnb4qv-J/J | Repository-Cryopreserved |
| Mice homozygous for the quivering-Jackson spontaneous mutation (Spnb4qv-J) are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males. Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal. The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that the deafness, unlike that of any other deaf mutants in the mouse, is of central origin. Viability of homozygous mutant mice at weaning is normal, but the life span is short, the majority dying before 5 months of age. Males are sterile, but females may be fertile and nurse their young. | ||
| 001904 | C3H-Atcayji-hes/J | Repository-Cryopreserved |
| Mice homozygous for the hesitant spontaneous mutation (Atcayji-hes) can be recognized at 14 days of age by their slightly smaller size and hesitant walking motion. From 3 weeks of age on, the hindlimbs of homozygous mutant mice hesitate after lifting and then are placed flat on the surface and stiffly extended causing the posterior to rise. No body tremors, spasticity, or muscle degeneration is observed. Homozygotes of both sexes are fertile, although fertility in males may be reduced. | ||
| 003401 | C3H/HeJ-Lpin1fld-2J/J | Repository-Cryopreserved |
| Homozygous fatty liver dystrophy (fld) mice have an enlarged, fatty liver and hypertriglyceridemia which resolve to normal during the weaning transition. However, decreased overall size, decreased lipid in the fat pads, and a peripheral neuropathy persist throughout the lifespan. This peripheral neuropathy manifests as a tremor and an unsteady gait shortly after 10 days of age and worsens with age. The fld neuropathy is specific to the peripheral nervous system. Electron microscopy of sciatic nerves revealed thin, poorly compacted myelin sheaths, hypertrophic Schwann cells, myelin debris, degenerating axons, bands of Bugner, and regenerative clusters, but no evidence of inflammation (Langner et al, 1991). Western blot analysis of sciatic nerve from two-to-three month old fld/fld mice showed a 7-13-fold reduction in myelin P0, a vast increase in apoE, an increase in GAP-43, and no detectable myelin P2. It was also noted that a
..... For more information please see the full phenotype on the strain data sheet | ||
| 002433 | C3H/HeJ-Spnb4qv-lnd2J/J | Repository-Cryopreserved |
| Mice homozygous for the recessive Spnb4qv-lnd2J mutation are identifiable by 2 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 4 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 normal co
..... For more information please see the full phenotype on the strain data sheet | ||
| 000775 | C3H/HeSn-bc3J/J | Repository-Cryopreserved |
| 002235 | C3H/HeSnJ-Ctnna2cdf/J | Repository-Cryopreserved |
| Cerebellar deficient folia (cdf) is a recessive mutation which maps to chromosome 6. Homozygotes display a constant side-to-side wobble in their gait that is apparent as early as 2 weeks of age. Additionally, they often hold their tails off the surface or arch them over their heads while moving. Smaller size is detectable in homozygotes by two weeks of age, at weaning they weigh approximately 25% less than littermate controls, and as adults they weigh, on average, 50% less. These mutants live a normal life span (one-and-a-half to two years on the C3H/HeJ background), but homozygous males rarely breed and homozygous females are poor mothers requiring transfer of litters to foster mothers. The cdf mutation causes a hypoplastic and dysmorphic cerebellum. On the C3H/HeJ background, homozygotes have only 7 cerebellar folia rather than the 10 present in wildtype, and the folia pattern is abnormal. Their vermis is one-third smaller than wildtype in rostro-caudal length
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| 001767 | C3H/HeSnJ-wlvmd/J | Repository-Cryopreserved |
| Mice homozygous for the vestibulomotor degeneration spontaneous mutation (wlvmd) can be identified at 20 days of age by their small size, shaky behavior, ungroomed coat, and emaciation. Homozygous mutant mice tend to sit hunched with rear feet and limbs tucked in towards the body and exhibit a generalized tremor. When startled, they jump sideways. They clasp their hind feet when picked up by the tail. Most mutants die by 30 days of age, probably from inability to feed and starvation. There is no apparent difference between the wabbler lethal (wl) and vestibulomotor degeneration mutant phenotypes. | ||
| 003532 | C3HeB.129S7-Kcna1tm1Tem/J | Repository-Cryopreserved |
| Homozygous null mice display an epileptic phenotype (episodic eye blinking, twitching of vibrissae, forelimb paddling, arrested motion, hyperstartle response) beginning during the third postnatal week. Quantitative RNase protection analysis on brain tissue indicates that in heterozygous mice the Kcna1 transcript is reduced to approximately half that observed in wild-type littermates. No transcripts were detected in homozygous mice. Approximately 50% of the homozygous mice die between the third and fifth weeks of life. Mice surviving this period survive for varying periods, depending on genetic background; congenic C3HeB/FeJ mice usually die at 6-8 weeks; hybrid N:NIHS-BC mice have been maintained for over 12 months during which they continue to display spontaneous seizures. A similar phenotype with spontaneous seizures has been observed in mice having 129/Sv, C3HeB/FeJ, C57BL/6 X 129/Sv, and 129/Sv X N:NIHS-BC backgrounds. | ||
| 001886 | C3HeB/FeJLe a/a-gnd/J | Repository-Cryopreserved |
| Mice homozygous for the generalized neuroaxonal dystrophy spontanteous mutation (gnd) have large numbers of dystrophic axons in all white matter funiculi and in central grey matter at all levels of the spinal cord. Dystrophic axons also common throughout the brain stem. In the forebrain, some can be seen in the optic nerves and tracts, corpus callosum, rostral commissure, and fornix. Mutant mice are identifiable between 2 and 3 weeks of age by their small size, dull fur, and nervous behavior. Adults are smaller than littermates and have a humped back and slender torso. They walk with a shaky gait and restricted hip movement. Hindlimbs paralyzed by 8 months of age. They rarely breed. | ||
| 001502 | C3Sn.B6-Epha4rb/J | Repository-Cryopreserved |
| Mice homozygous for the rb allele of Epha4 can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail homozygotes clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength. | ||
| 005465 | C57BL/6J-Clcn1adr-mto7J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Clcn1adr-mto7J entry. | ||
| 003129 | C57BL/6J-Epha4rb-2J/J | Repository-Cryopreserved |
| Mice homozygous for the Epha4rb-2J allele can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail mutants clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength. More severely affected homozygous mutant mice also lean frequently to either side, a phenotype not reported in mice homozygous for the rb allele of Epha4. Homozygous females may deliver 2-3 pups per litter but often exhibit poor nurturing. | ||
| 004109 | C57BL/6J-Glra1nmf11/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Glra1nmf11 entry. | ||
| 000527 | C57BL/6J-Grid2ho-5J/J | Repository-Cryopreserved |
| 005561 | C57BL/6J-Grm1nmf373/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Grm1nmf373 entry. | ||
| 005521 | C57BL/6J-Grm1rcw-3J/J | Repository-Cryopreserved |
| Mice homozygous for the recoil wobbler 3 Jackson mutation have a slightly smaller body size and a wobbly gait, causing loss of balance when walking, usually visible by 2 weeks of age. | ||
| 005748 | C57BL/6J-Kcnq1vtg-3J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Kcnq1vtg-3J entry. | ||
| 005468 | C57BL/6J-Myo7ash1-11J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Myo7ash1-11J entry. | ||
| 004817 | C57BL/6J-Npc1nmf164/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Npc1nmf164 entry. | ||
| 005047 | C57BL/6J-Rorasg-3J/J | Repository-Cryopreserved |
| Mice homozygous for this ENU-induced mutation are smaller than normal and, by 3.5 weeks of age on average, display splayed hind limbs and a leaning gait. They fall over on their sides and have difficulty regaining a walking position. A disorganized Purkinje cell layer and loss of granule cells has been found. For additional information on Rorasg-3J view the web page on the Neuroscience Mutagenesis Facility web site. | ||
| 004102 | C57BL/6J-Scn8a4J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Scn8a4J entry. | ||
| 004105 | C57BL/6J-Scn8a5J/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Scn8a5J entry. | ||
| 001028 | C57BL/6J-Spnb4qv-3J/J | Repository-Cryopreserved |
| Mice homozygous for the quivering 3 Jackson spontaneous mutation (Spnb4qv-3J) are very similar to mice homozygous for the quivering-Jackson mutation (Spnb4qv-J). Homozygous quivering mutant mice are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males. Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal. The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that the deafness, unlike that of any other deaf mutants in the mouse, is of central origin. Viability of homozygous mutant mice at weaning is normal, but the life span is short, the majority dying before 5 months of age. Males are st
..... For more information please see the full phenotype on the strain data sheet | ||
| 004811 | C57BL/6J-nmf110/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf110 entry. | ||
| 004814 | C57BL/6J-nmf127/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf127 entry. | ||
| 004765 | C57BL/6J-nmf148/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf148 entry. | ||
| 004823 | C57BL/6J-nmf205/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf205 entry. | ||
| 005010 | C57BL/6J-nmf242/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf242 entry. | ||
| 005298 | C57BL/6J-nmf313/J | Repository-Cryopreserved |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf313 entry. | ||
| 002760 | C57BLKS/J-Npc1spm/J | Repository-Cryopreserved |
| 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. | ||
| 002457 | CBA/J-wl3J/J | Repository-Cryopreserved |
| 003581 | CBy.129S4-Dab1tm1Cpr/J | Repository-Cryopreserved |
| Homozygous Dab1-null mice become tremulous and ataxic at approximately postnatal day 10. Multiple defects can be detected in brain tissue. Lamellar structures in the cortex and hippocampus appear disorganized and the cerebellum is small and disorganized. Although homozygotes null reportedly die at 4-5 weeks on a mixed B6,129 or 129/Sv background, mice on a BALB/cByJ are viable. | ||
| 002894 | CByJ.A-Atp2b2dfw-2J/J | Repository-Cryopreserved |
| The deaf waddler 2J allele (Atp2b2dfw-2J) arose spontaneously in a congenic substrain of BALB/cByJ mice, CByJ.A-fsn/J. Homozygous mutant mice are viable, but neither sex will breed. They are recognizable by 12-14 days of age by their hesitant, wobbly gait and head bobbing behavior. Homozygotes also develop a slight body tremor and become increasingly lethargic. Homozygous mutant mice are profoundly deaf, exhibiting no discernible auditory brainstem responses (ABR) to stimuli up to 100 dB. Heterozygous Atp2b2dfw-2J mutant mice also show age-dependent changes in ABR and progressive hearing loss as a result of a modifier allele (ahl) present in BALB/cByJ mice. We are currently selecting away from the flaky skin mutation (fsn) carried by this strain. | ||
| 004913 | CByJ.B6-Inpp4awbl/FrkJ | Repository-Cryopreserved |
| Mice homozygous for Inpp4awbl exhibit small size, ataxia, and cell death in the cerebellum, hippocampus (CA1) and neocortex. Homozygotes die between two and five weeks probably from seizures and/or failure to thrive. Heterozgotes do not display an overt locomotor defect. | ||
| 004518 | DBA/2J-Agtpbp1pcd-5J/J | Repository-Cryopreserved |
| 000548 | DBA/2J-Grid2ho-4J/J | Repository-Cryopreserved |
| 003640 | FVB/NJ-Tg(YAC72)2511Hay/J | Repository-Cryopreserved |
| Mice homozygous for this transgene are viable and fertile. The human huntingtin transgenic protein is expressed widely in many tissues (identical to the endogenous huntingtin protein), but has highest levels of expression in the brain and testes. Electrophysiological abnormalities can be measured by 6 months. A behavioral phenotype is first detected at 7 months when evidence of mild hyperkinetic movement disorder is noticeable. This disorder is characterized by progressive spontaneous hyperactivity during the dark phase of open field-testing. By 12 months of age selective degeneration of medium spiny neurons in the lateral striatum is observed. This degeneration is associated with the translocation of N-terminal huntingtin fragments to the nucleus. This strain represents a Huntington's Disease mouse model where a mutant full-length human huntingtin is expressed under control of its endogenous promoter. | ||
| 000259 | JE/LeJ | Repository-Cryopreserved |
| Mice homozygous for the jerker spontaneous mutation (Espnje) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age. JE/Le mice are also homozygous for the nonagouti (a), flexed tail (f), and ruby-eye (Hps6ru) mutations. | ||
| 000572 | JIGR/DnJ | Repository-Cryopreserved |
| JIGR/Dn is maintained with jittery (Atcayji) and grizzled (gr) in repulsion.
Atcayji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approxi
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| 000622 | SHR/GnEiJ | Repository-Cryopreserved |
| 003011 | SJL/J-Slc9a1swe/J | Repository-Cryopreserved |
| Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem. | ||
| 004685 | STOCK Cln3tm1.1Mem/J | Repository-Cryopreserved |
| 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 | ||
| 002276 | STOCK Ntf3tm1Jae/J | Repository-Cryopreserved |
| Mice homozygous for the Ntf3tm1Jae targeted mutation are smaller than their normal littermates and most die shortly after birth. Survivors die prior to weaning. They display limb ataxia, an inability to position the limbs properly when attempting to move, and there is a tendency for all four limbs to intermittently stiffen in an extensor posture. Autopsy showed all peripheral ganglia markedly smaller in the mutant. Spinal proprioceptive afferents and their peripheral sense organs are completely absent. Heterozygous mice appear normal; however, the number of muscle spindles in heterozygotes is half that of normal wildtype siblings. There is approximately a 50% reduction in the sympathetic superior cervical ganglion (SCG) neurons caused by excessive apoptosis of sympathetic neuroblasts during neurogenesis. | ||
| 008138 | STOCK Stx1b2tm1Sud/J | Repository-Cryopreserved |
| Homozygous mice die roughly 14 days after birth (P14) for unknown reasons. They g | ||