Hr<rh> Spontaneous Allele Detail MGI Mouse (MGI:1856059)

Hr^rh
Spontaneous Allele Detail

Summary

Symbol:	Hr^rh
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:	Hr^rh page

Hr^rh/Hr^rh

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 details: This allele was initially defined by a noncomplementation test with Hr^hr, 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

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:	84 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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