Primary Identifier | MGI:2178126 | Allele Type | Spontaneous |
Gene | Tyrp1 | 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 | Expression of a BAC containing the wild-type Tyrp1 gene rescues the phenotype of isa mice. The isa phenotype has been identified in numerous aged stocks carrying Tyrp1b allele. It is therefore most probable, that the Tyrp1b allele is responsible for the isa phenotype. |