Hephl1<cw> Spontaneous Allele Detail MGI Mouse (MGI:1856476)

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

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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