Cct2^em2Itwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cct2^em2Itwa
• Name: chaperonin containing TCP1 subunit 2; endonuclease-mediated mutation 2, Takeshi Iwata
• MGI ID: MGI:7782499
• Synonyms: Cct2 R516H
• Gene: Cct2 Location: Chr10:116886906-116899719 bp, - strand Genetic Position: Chr10, 65.07 cM, cytoband D2
• Alliance: Cct2^em2Itwa page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a GA to AC change at position 1760-1761 (c.1760_1761delinsAC) resulting in an arginine to histidine substitution at amino acid 516 (p.R516H). In addition, a synonymous c.1764G>C mutation was generated to create a TaqI restriction enzyme site. Western blot analysis indicates a 60% decrease in protein in homozygotes. This is a missense mutation identified in individuals with Leber congenital amaurosis. (J:358007)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cct2 Mutation: 36 strains or lines available

References

• Original: J:358007 Suga A, et al., Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance. Commun Biol. 2024 Jun 3;7(1):676
• All: 1 reference(s)