| Primary Identifier | MGI:1856059 | Allele Type | Spontaneous |
| Attribute String | Not Specified | Gene | Hr |
| Inheritance Mode | Recessive | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| description | 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). |
| molecularNote | This 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. |
