The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1).

ABSTRACT: The spontaneous, curly whiskers mutation (abbreviated cw) generates kinky, brittle vibrissae in homozygous mice. Although cw has been mapped to the centromeric end of mouse Chromosome 9, no particular gene has been causally implicated, and this lack of genetic assignment has stymied cw's complete molecular and functional analysis. As a foundation for its positional cloning, we have fine-mapped cw to a small, 0.57 Mb interval that contains only three skin-expressed genes, including hephaestin-like 1 (Hephl1), which encodes a membrane-bound, multi-copper ferroxidase. Sequence analysis of all Hephl1 coding regions in cw/cw mutants revealed a single-base-pair substitution that alters Hephl1 mRNA splicing, and is specific to the

SUBMITTER: Eragene S 

PROVIDER: S-EPMC6595121 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature