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.Read More +
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.
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 Name||lethal wasting|
|Gene Symbol and Name||Vamp1, vesicle-associated membrane protein 1|
|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.|
Because mice homozygous for this recessive mutation die by wean age, this strain needs to be progeny tested at each generation to identify heterozygous breeder pairs.
When using the C3H/HeSnJ-Vamp1lew/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #004626 in your Materials and Methods section.