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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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Synonyms: |
Gnat2 |
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Gene:
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Gnat2
Location:
Chr3:107895707-107904350 bp, + strand
Genetic Position: Chr3,
49.0 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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A single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from apartic acid to asparagine. (J:122428) |
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Inheritance: |
Recessive |
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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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| Genotype | Allelic Composition | Genetic Background |
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  hm1
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Gnat2cpfl3/Gnat2cpfl3 |
ALS/LtJ |
vision/eye nervous system cardiovascular system |
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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)
Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: OMIM +139340 ACHROMATOPSIA 4.
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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: |
5 reference(s)
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