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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:
Chr6:49036518-49058182 bp, + strand
Genetic Position: Chr6,
23.82 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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Mutation details: 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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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: |
18 reference(s)
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Analysis Tools
