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Hephl1cw
Spontaneous Allele Detail
Nomenclature
Symbol: Hephl1cw
Name: hephaestin-like 1; curly whiskers
MGI ID: MGI:1856476
Synonyms: cw
Gene: Hephl1  Location: Chr9:15051841-15112108 bp, - strand  Genetic Position: Chr9, Syntenic
Curly whiskers in Hephl1cw/Hephl1cw 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 detailsThis 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 Hephl1cw allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  1 strain or line 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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory