Gnat2^cpfl3
Spontaneous Allele Detail

Summary

• Symbol: Gnat2^cpfl3
• Name: G protein subunit alpha transducin 2; cone photoreceptor function loss 3
• MGI ID: MGI:3588845
• Synonyms: no cones
• Gene: Gnat2 Location: Chr3:108000105-108008748 bp, + strand Genetic Position: Chr3, 46.83 cM
• Alliance: Gnat2^cpfl3 page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A single nucleotide substitution of G to A at coding nucleotide 598 in exon 6. This mutation converts codon 200 from aspartic acid to asparagine (p.D200N). (J:122428)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 16 strains available Cell Lines: 0 lines available
• Carrying any Gnat2 Mutation: 35 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: 62 reference(s)