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

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)