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Allele : Tyrp1<isa> tyrosinase-related protein 1; iris stromal atrophy

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.
  • mutations:
  • Other
  • synonyms:
  • isa,
  • isa
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

25 Publication categories

Trail: Allele