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Hrrh-Chr
Spontaneous Allele Detail
Summary
Symbol: Hrrh-Chr
Name: lysine demethylase and nuclear receptor corepressor; rhino Christiano
MGI ID: MGI:3630275
Gene: Hr  Location: Chr14:70789652-70810988 bp, + strand  Genetic Position: Chr14, 36.32 cM
Alliance: Hrrh-Chr page
Mutation
origin
Strain of Origin:  wild
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA C-to-T transition mutation at codon 467 results in an arginine to stop codon alteration (p.R467*) in the encoded protein. (J:53633)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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 Hr Mutation:  87 strains or lines available
References
Original:  J:53633 Ahmad W, et al., Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene. Exp Dermatol. 1998 Oct;7(5):298-301
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory