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| Nomenclature |
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Symbol:
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Gnat2cpfl3
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Name:
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guanine nucleotide binding protein, alpha transducing 2;
cone photoreceptor function loss 3
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MGI ID: |
MGI:3588845 |
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Gene:
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Gnat2
Location:
Chr3:108092789-108101432 bp, + strand
Genetic Position: Chr3,
46.83 cM
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Mutation
origin |
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Strain of Origin:
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various
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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: A single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine. (J:122428)
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Inheritance: | |
Recessive |
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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 |
This allele has been detected in the following strains either by genotyping or complementation testing: ALS/LtJ, SENCARA/PtJ, SENCARB/PtJ, SENCARC/PtJ, PN/nBSwUmabJ. (J:122428)
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| References |
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Original: |
J:122428
Chang B et al.,
"Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2."
Invest Ophthalmol Vis Sci 2006 Nov;47(11):5017-21
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All: |
11 reference(s)
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Analysis Tools
