Gnat2cpfl3 homozyogtes have poor cone-mediated responses evident by 3 weeks of age and completely lack cone-mediated responses from 9 weeks of age on.
The cpfl3 mutation provides a model for achromatopsia 4.
Electroretinography shows that cpfl3 homozyogtes have poor cone-mediated responses evident by 3 week of age and completely lack cone-mediated responses from 9 weeks of age on. Rod-mediated responses are nearly normal, but with some diminution with age. Histology shows the normal 8 to 10 rows of rod nuclei at 6 and 15 weeks of age, but vacuolization and shortening of the photoreceptor outer segments is found at 27 weeks of age. Loss of immunohistochemical staining of cone-specific alpha transducin occurs by 4 weeks of age yet peanut agglutinin staining shows a normal number of cone outer segments at 14 weeks of age. Fundus photographs are essentially normal except for slightly dilated retinal veins and slightly contracted arterioles at 8 months of age.
The Gnat2cpfl3mutation was found in the ALS/LtJ strain and first reported in 2006. The mutation consists of a single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine.
|Allele Name||cone photoreceptor function loss 3|
|Allele Synonym(s)||no cones|
|Gene Symbol and Name||Gnat2, guanine nucleotide binding protein, alpha transducing 2|
|Gene Synonym(s)||ACHM4; AW490837; GNATC; Gnat-2; Gnat-2; Gt-2; Tcalpha; expressed sequence AW490837|
|Strain of Origin||various|
|General Note||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)|
|Molecular Note||A single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine.|
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