Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Hephl1cw-2J Name: hephaestin-like 1; curly whiskers 2 Jackson MGI ID: MGI:6314748 Gene: Hephl1  Location: Chr9:14963137-15023404 bp, - strand  Genetic Position: Chr9, Syntenic Alliance: Hephl1cw-2J page

Curly whiskers in Hephl1cw-2J/Hephl1cw-2J mice Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

B10.SM-H2v H2-T18b/(70NS)SnJ

Allele Type:    Spontaneous (Null/knockout) Mutation:    Insertion   Mutation details: This spontaneous insertion of a single A into 9:15067150 (GRCm38.p6) in exon 14 is predicted to cause a frameshift that changes amino acid codons 820-826 then premature termination and nonsense-mediated decay. (J:276072) Inheritance:    Recessive

Identification of the mutation in the Hephl1cw-2J allele

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hephl1 Mutation:	55 strains or lines available

Original:	J:276072 Eragene S, et al., The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1). Mol Genet Metab Rep. 2019 Sep;20:100478
All:	1 reference(s)