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Gnat2cpfl3
Spontaneous Allele Detail
Nomenclature
Symbol: Gnat2cpfl3
Name: guanine nucleotide binding protein, alpha transducing 2; cone photoreceptor function loss 3
MGI ID: MGI:3588845
Synonyms: no cones
Gene: Gnat2  Location: Chr3:108092789-108101432 bp, + strand  Genetic Position: Chr3, 46.83 cM
Mutation
origin
Strain of Origin:  various
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA 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)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 15 strains available      Cell Lines: 0 lines available
Carrying any Gnat2 Mutation:  26 strains or lines available
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) The allele has also been reported in NMRI and CD1 (Lluis Montoliu, J:212307)
References
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
All:  24 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory