These mice carry a spontaneous mutation at the Mbp locus commonly referred to as "Shiverer", and are characterized by a deficiency of myelin in the central nervous system with progressive development of tremors and seizures.Read More +
Mice homozygous for the shiverer spontaneous mutation (Mpbshi) 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 (Mbpshi-mld) homozygotes closely resemble shiverer mice in behavior, neuropathology, and MBP deficiency.
The Mbpshi mutation originated on the strain SWV (Swiss Webster Vancouver) and was backcrossed onto the C3HeB/FeJ background. Dorf and his colleagues made the BALB/cHa congenic from the C3H congenic. So the congenic interval containing Mbpshi is derived from SWV, but there may be genetic material from C3H in the BALB/c congenic strain, particularly flanking the original congenic interval.
|Gene Symbol and Name||Mbp, myelin basic protein|
|Gene Synonym(s)||C76307; Hmbpr; Hmbpr; R75289; expressed sequence C76307; expressed sequence R75289; golli-mbp; hemopoietic myelin basic protein related; jive; jve; jve; mld; myelin deficient; shi; shiverer|
|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.|
|Please inquire about possible genotypes.|
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