Cnga3^cpfl5
Spontaneous Allele Detail

Summary

• Symbol: Cnga3^cpfl5
• Name: cyclic nucleotide gated channel alpha 3; cone photoreceptor function loss 5
• MGI ID: MGI:3608770
• Gene: Cnga3 Location: Chr1:37257317-37302465 bp, + strand Genetic Position: Chr1, 15.46 cM, cytoband B
• Alliance: Cnga3^cpfl5 page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Sequence analysis of this spontaneous phenotypic mutation identified a single A to G substitution at Chr1: 37,258,096 (GRCm38.p6, sequence ATGCTGGTTCGAGCCCGG(A-to-G)CA) which changes codon ACA to GCA in exon 5, changing amino acid 165 from threonine to alanine (p.T165A). (J:167197)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cnga3 Mutation: 27 strains or lines available

References

• Original: J:167197 Hawes N, et al., A Point Mutation in the Cnga3 Gene Causes Cone Photoreceptor Function Loss (cpfl5) in Mice. Invest Ophthalmol Vis Sci. 2006;47(13):4579
• All: 8 reference(s)