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| Nomenclature |
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Symbol:
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Tyrp1isa
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Name:
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tyrosinase-related protein 1;
iris stromal atrophy
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MGI ID: |
MGI:2178126 |
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Synonyms: |
isa |
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Gene:
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Tyrp1
Location:
Chr4:80480027-80497623 bp, + strand
Genetic Position: Chr4,
38.0 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Other |
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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. (J:75398) |
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Inheritance: |
Not Specified |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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Notes |
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.
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| References |
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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
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All: |
8 reference(s)
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