B6.Cg-Mpz^ttrr/GrsrJ

Stock number: 010494
Research areas: Neurobiology Research

Description

Mice homozygous for the totterer mutation exhibit mild tremors at approximately 2 weeks of age with worsening muscle weakness such that by 6 to 8 weeks of age they display a shaking, limb grasping, hunched, sprawled, tottering walk and develop late-onset clinical paralysis. Premature death results. Homozygotes are poor breeders, reproducing at most once or twice, and females are poor mothers.

Detailed description

Mice homozygous for the totterer mutation exhibit mild tremors at approximately 2 weeks of age with worsening muscle weakness such that by 6 to 8 weeks of age they display a shaking, limb grasping, hunched, sprawled, tottering walk and develop late-onset clinical paralysis. Premature death results. Homozygotes are poor breeders, reproducing at most once or twice, and females are poor mothers.

Development

The totterer mutation arose spontaneously in the strain B6.129P2-Nos3^tm1Unc/J at The Jackson Laboratory in 2003 when that parental strain was at generation N12F7. This mutant subline has been maintained by sibling inbreeding, and the targeted mutation was bred out.

Allele

Symbol: Mpz^ttrr
Name: totterer
MGI accession ID: MGI:3844951
Generation method: Spontaneous
Marker symbol: Mpz
Marker name: myelin protein zero
Marker synonyms: CHM; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0
Chromosome: 1
Strain of origin: B6.129P2-Nos3^tm1Unc/J
Molecular note: Exon 8 contains a deletion of 4 nucleotides and a duplication of 12 nucleotides, which is predicted to result in multiple amino acid changes at the protein amino terminus.