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| Nomenclature |
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Symbol:
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GpnmbR150X
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Name:
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glycoprotein (transmembrane) nmb;
iris pigment dispersion
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MGI ID: |
MGI:2177814 |
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Synonyms: |
Gpnmbipd |
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Gene:
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Gpnmb
Location:
Chr6:48986612-49006778 bp, + strand
Genetic Position: Chr6,
21.0 cM
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GpnmbR150X/GpnmbR150X mouse eyes develop a pronounced peripupillary swelling
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Single point mutation |
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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, Arg150stop. (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: |
12 reference(s)
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