Cct2^em1Itwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cct2^em1Itwa
• Name: chaperonin containing TCP1 subunit 2; endonuclease-mediated mutation 1, Takeshi Iwata
• MGI ID: MGI:7782498
• Synonyms: Cct2 T400P
• Gene: Cct2 Location: Chr10:116886906-116899719 bp, - strand Genetic Position: Chr10, 65.07 cM, cytoband D2
• Alliance: Cct2^em1Itwa page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to C change at position 1411 (c.1411A>C) resulting in a threonine to proline substitution at amino acid 400 (p.T400P). This is a missense mutation identified in individuals with Leber congenital amaurosis. (J:358007)

Disease models

Expression

In Structures Affected by this Mutation:

1 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)