Hephl1^cw-2J
Spontaneous Allele Detail

Summary

• Symbol: Hephl1^cw-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: Hephl1^cw-2J page

Curly whiskers in Hephl1^cw-2J/Hephl1^cw-2J mice

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

Mutation origin

• Strain of Origin: B10.SM-H2^v H2-T18^b/(70NS)SnJ

Mutation description

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 Hephl1^cw-2J allele

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)