C3H/HeSnJ-Vamp1^lew/GrsrJ

Stock number: 004626
Research areas: Developmental Biology Research, Metabolism Research

Description

Mice homozygous for this recessive mutation are recognized by their wasting pre-weaning lethal phenotype, they curl up, waste away and die by 21 days. Mutants do not live to breed but no lesions have been found pathologically.

Detailed description

Mice homozygous for this recessive mutation are recognized by their wasting pre-weaning lethal phenotype, they curl up, waste away and die by 21 days. VAMP1 mRNA was found to be significantly downregulated in the lethal-wasting brain compared to wild-type littermates. Mutants do not live to breed but no lesions have been found pathologically.

Development

The lew mutation arose spontaneously in 1985 in a mutation-bearing C3H/HeDiSnJ subline at The Jackson Laboratory and has been maintained on the same background.

Allele

Symbol: Vamp1^lew
Name: lethal wasting
MGI accession ID: MGI:2449158
Generation method: Spontaneous
Marker symbol: Vamp1
Marker name: vesicle-associated membrane protein 1
Chromosome: 6
Strain of origin: C3H/HeSnJ
Molecular note: A spontaneous mutant identified at The Jackson Laboratory. A c.190G>T transversion creates a premature stop codon at glutamic acid codon 64 (p.E64*). The predicted protein that results would lack both a transmembrane domain and a calmodulin interaction domain. mRNA levels are severely reduced and no protein can be detected by immunohistochemistry in the brain.