C3Fe.SWV-Mbp^shi/J

Stock number: 001428
Product name: C3HeB/FeJ-shiverer
Research areas: Neurobiology Research, Sensorineural Research

Description

Shiverer is an autosomal recessive mutation in the mouse characterized by early generalized tremors that become prominent in the hindquarters with age. Seizure behavior begins after weaning and increases in frequency during the animal's shortened lifespan. The most prominent pathological feature is a deficiency of myelin and myelin basic protein in the central nervous system. These mice may be useful in studies relating to myelin related diseases.

Detailed description

Mice homozygous for the shiverer spontaneous mutation (Mpb^shi) show a generalized tremor during locomotion from 12 days of age. This shivering increases in severity with age, and there is incoordination of the hindlimbs. Post-weaning mice undergo seizure-like attacks during which they may lie rigid and motionless for many seconds. Homozygotes are noticeably smaller than their littermates by 4 weeks of age and their life span is shortened. They usually die between 50 and 100 days of age, often while undergoing an attack. They are fertile but do not breed well. There is a severe myelin deficiency throughout the CNS, and a moderate hypomyelination in the PNS. Occasional regions of normal appearing myelin are found throughout the CNS. Heterozygous mice behave normally and have structurally normal myelin but produce only half the normal amount of MBP in both CNS and PNS. Myelin deficient (Mbp^shi-mld) homozygotes closely resemble shiverer mice in behavior, neuropathology, and MBP deficiency.

Development

The shiverer spontaneous mutation involves a large deletion from intron 1 to exon 6. The portion of the gene remaining includes exon 1 and 12.4-14.4 kb of intron 1 sequences.

Allele

Symbol: Mbp^shi
Name: shiverer
MGI accession ID: MGI:1856159
Generation method: Spontaneous
Marker symbol: Mbp
Marker name: myelin basic protein
Chromosome: 18
Strain of origin: SWV
Molecular note: The shiverer mutation involves a large deletion from intron 1 to exon 6. The portion of the gene remaining includes exon 1 and 12.4-14.4 kb of intron 1 sequences.