Hephl1^cw
Spontaneous Allele Detail

Summary

• Symbol: Hephl1^cw
• Name: hephaestin-like 1; curly whiskers
• MGI ID: MGI:1856476
• Synonyms: cw
• Gene: Hephl1 Location: Chr9:14963137-15023404 bp, - strand Genetic Position: Chr9, Syntenic
• Alliance: Hephl1^cw page

Curly whiskers in Hephl1^cw/Hephl1^cw mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: CBA/Cbi

Mutation description

Allele Type: Spontaneous (Hypomorph) Mutation: Single point mutation Mutation details: 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. (J:276072) Inheritance: Recessive

Identification of the mutation in the Hephl1^cw allele

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Hephl1^cw

Find Mice (IMSR)

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

References

• Original: J:5006 Falconer DS, et al., Curly-whiskers and its linkage with tail-kinks in linkage group II of the mouse. Genet Res. 1966 Aug;8(1):111-3
• All: 4 reference(s)