These mice carry a spontaneous mutation at the Cacnb4 locus characterized by neurological and immunological defects with occasional seizures that resemble human petit mal seizures. They also show pituitary-adrenal hypercorticism.Read More +
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.
|Allele Name||wild-type agouti|
|Allele Synonym(s)||dark-bellied agouti|
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||various|
|General Note||The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.|
|Molecular Note||This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.|
|Allele Synonym(s)||beta4lh; lh|
|Gene Symbol and Name||Cacnb4, calcium channel, voltage-dependent, beta 4 subunit|
|Strain of Origin||BALB/cGn|
|Molecular Note||A four bp insertion that disrupts the consensus 5' splice site of intron A/B was identified. Reduced levels of transcripts are produced from this allele and are present at approximately 20% of the normal levels in homozygous mice.|
When using the lethargic mouse strain in a publication, please cite the originating article(s) and include JAX stock #000504 in your Materials and Methods section.