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Hrrh
Spontaneous Allele Detail
Summary
Symbol: Hrrh
Name: lysine demethylase and nuclear receptor corepressor; rhino
MGI ID: MGI:1856059
Gene: Hr  Location: Chr14:70789652-70810988 bp, + strand  Genetic Position: Chr14, 36.32 cM
Alliance: Hrrh page
Hrrh/Hrrh

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

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Undefined
 
Mutation detailsThis allele was initially defined by a noncomplementation test with Hrhr, and subsequently defined as a C to T transition at position 2166 of the cDNA (c.C2166T) results in a stop codon in place of an arginine in exon 6, resulting in premature translational termination. (J:57947)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 22 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
Notes
Rhino mice represent a genetic disorder affecting the meibomian gland structure and function. Ductal epithelial hyperkeratinization leads to plugging of the gland orifice and gland atrophy. Hyperkeratinization was not seen in the conjunctival or corneal epithelium (J:16021). Rhino mice have spleen cells with a defective response to T-dependent antigens (J:6391) and they develop an autoimmune disease characterized by hypergammaglobulinemia, immunoglobulin deposits in basement membrane of skin, spleen, liver, and kidney, and presence of antinuclear antibodies which appear in young mice and increase with age (J:6387).
References
Original:  J:13057 Howard A, "Rhino," an allele of hairless in the house mouse. J Hered. 1940;31(11):467-470
All:  21 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