Cct2^em2Tiwata

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Species

Mus musculus

Symbol

Cct2^em2Tiwata

Category

allele

Allele of gene

Cct2

Transgenic Constructs

None

Synonyms

• Cct2 R516H
• Cct2^em2Itwa

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations