Cnga1^m1Mhda
Chemically induced Allele Detail

Summary

• Symbol: Cnga1^m1Mhda
• Name: cyclic nucleotide gated channel alpha 1; mutation 1, Martin Hrabe de Angelis
• MGI ID: MGI:7434652
• Synonyms: Cnga1^Y509C
• Gene: Cnga1 Location: Chr5:72761039-72800095 bp, - strand Genetic Position: Chr5, 38.44 cM
• Alliance: Cnga1^m1Mhda page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: The mutation comprises an A to G change at nucleotide position 1526 (c.1526A>G), resulting in a tyrosine to cystine substitution at amino acid 509 (p.Y509C). Although this mutation does not affect the same glycine reside as the c.1525G>A mutation found in patients with retinitis pigmentosa (p.G509R), it affects a tyrosine residue just four amino acids downstream from Gly509 and is thought to mimic the human p.G509R substitution. Homozygous mice show normal transcript levels but almost complete lack of protein in Western blot and immunohistochemistry. (J:333119)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Cnga1 Mutation: 47 strains or lines available

References

• Original: J:333119 Kandaswamy S, et al., Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model. Cell Death Discov. 2022 Sep 17;8(1):387
• All: 1 reference(s)