B6.Cg-Gnat2^cpfl3-2J/Boc

Stock number: 027786
Research areas: Research Tools, Sensorineural Research

Description

This spontaneous premature stop codon early in the Gnat2 sequence provides a model for autosomal recessive achromatopsia (ACHM4).

Detailed description

This spontaneous C to T transition in exon 2 of Gnat2 causes a change in codon 24 from CAG, glutamine, to TAG, a stop codon. Homozygotes develop a loss of cone-mediated response evident by electroretinography by 3 weeks of age, but the rod-mediated responses are normal. Even at 6 months of age the retina appears normal by histology. This mutation was further proven to be a defect in Gnat2 by failure to complement the Gnat2^cpfl3 allele in an allele test. This mutation provides a model for autosomal recessive achromatopsia (ACHM4).

Development

The Gnat2^cpfl3-2J mutation arose spontaneously and was identified in the B10.129S2(B6)-Il3^tm1Tyb/J strain by Dr. Bo Chang who backcrossed this phenotypic mutation onto C57BL/6J for five generations before sibling intercrossing to generate this strain devoid of the Il3^tm1Tyb allele and homozygous for Gnat2^cpfl3-2J. This strain reached generation N5F8 in 2021.

Allele

Symbol: Gnat2^cpfl3-2J
Name: cone photoreceptor function loss 3, 2 Jackson
MGI accession ID: MGI:6798111
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Gnat2
Marker name: guanine nucleotide binding protein, alpha transducing 2
Chromosome: 3
Strain of origin: B10.129S2(B6)-Il3^tm1Tyb/J
Molecular note: a spontaneous single base pair change C to T in exon 2 results in a change at codon 24 from CAG to a TAG stop codon.