Primary Identifier | MGI:2177814 | Allele Type | Spontaneous |
Gene | Gpnmb | Inheritance Mode | Not Specified |
Strain of Origin | DBA/2J | Is Recombinase | false |
Is Wild Type | false |
description | The mouse strain DBA/2J develops glaucoma associated with iris stromal atrophy and iris pigment dispersion phneotypes. Genetic studies defined two separate loci that contribute to the overall phenotype in the DBA/2J mouse, ipd and isa. Either mutation in a homozygous state contributes to glaucoma, while mice homozygous for both mutations develop an earlier onset and more severe iris disease. |
molecularNote | The underlying mutation responsible for the phenotype in the iris pigment dispersion mouse was identified as a C-to-T substitution that resulted in a nonsense mutation, p.Arg150Ter. |