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Spontaneous Allele Detail
Symbol: Tyrp1isa
Name: tyrosinase-related protein 1; iris stromal atrophy
MGI ID: MGI:2178126
Synonyms: isa
Gene: Tyrp1  Location: Chr4:80834123-80851719 bp, + strand  Genetic Position: Chr4, 37.89 cM
Strain of Origin:  DBA/2J
Allele Type:    Spontaneous
Mutation:    Other
Mutation detailsExpression 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. (J:75398)
Inheritance:    Not Specified
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Tyrp1 Mutation:  177 strains or lines available

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.

Original:  J:54013 Chang B, et al., Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet. 1999 Apr;21(4):405-9
All:  12 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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