This inbred mutant strain carries the curly whiskers mutation (Hephl1cw) characterized by strongly curled whiskers in homozygotes, but coat hair is not waved.Read More +
This cryopreserved bankstock is homozygous for nonagouti, Myo5ad and Hephl1cw-2J.
The curly whiskers mutation (cw) arose spontaneously in 1958 in a CBA strain at the Chester Beatty Research Institute in London and was imported to The Jackson Laboratory. The imported genotype was cw + +/cw se tk, at/a b/+ cch/+. It was maintained by Dr. M.C. Green and was outcrossed once to a B6C3Fe-a/a F1 and then once to a DBA. It was within-stock mated for 3 generations and the cw d/+ d x cw d/cw d genotype was selected for inbreeding. It was brother x sister bred and reached generation F91 in 1995. It was cryopreserved in 1989 by mating cw d/+ d x cw d/cw d, but was subsequently thawed and re-frozen from homozygous females bred with homozygous males so the bankstock now available is homozygous cw d/cw d.
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|General Note||Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039|
|Molecular Note||Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.|
|Allele Name||curly whiskers|
|Allele Type||Spontaneous (Hypomorph)|
|Gene Symbol and Name||Hephl1, hephaestin-like 1|
|Strain of Origin||CBA/Cbi|
|Molecular Note||This spontaneous A to G point substitution at Chr9:15076948 (GRCm38.p6) in the splice acceptor 2 base pairs upstream of exon 11 results in 2 variant transcripts assessed as cDNA from heterozygous skin, of which the 581 bp variant has an early stop codon and is likely to be eliminated by nonsense-mediated decay, and the 397 bp variant is predicted to be stable but is found in lower abundance than the 606 bp wild type transcript.|
|Allele Synonym(s)||blue dilution; d; dv; Maltese dilution|
|Gene Symbol and Name||Myo5a, myosin VA|
|Strain of Origin||old mutant of the mouse fancy|
|Molecular Note||This mutation is the result of the integration of ecotropic murine leukemia virus Emv-3 into a noncoding region of the Myo5ad gene. Reversions of Myo5ad to wild-type are caused by excision of the virus leaving exactly one long terminal repeat in place.|
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