Cngb3^cpfl10
Spontaneous Allele Detail

Summary

• Symbol: Cngb3^cpfl10
• Name: cyclic nucleotide gated channel beta 3; cone photoreceptor function loss 10
• MGI ID: MGI:6274478
• Gene: Cngb3 Location: Chr4:19280850-19510623 bp, + strand Genetic Position: Chr4, 7.42 cM, cytoband A3
• Alliance: Cngb3^cpfl10 page

Mutation origin

• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: A spontaneous point mutation of G-to-A in exon 6 creates a missense mutation of arginine to histidine at position 231 (p.R231H). (J:269211)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cngb3 Mutation: 41 strains or lines available

References

• Original: J:269211 Hassall MM, et al., A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):6102-6110
• All: 2 reference(s)