Abcc9^em3Nich

---

Species

Mus musculus

Symbol

Abcc9^em3Nich

Category

allele

Allele of gene

Abcc9

Transgenic Constructs

None

Synonyms

• SUR2^RQ

Description

CRISPR/Cas9 technology introduced a G to A change at position 3452 (c.3452G>A) resulting in an arginine to glutamine substitution at residue 1151 (p.R1151Q) corresponding to the most common gain of function human R1154Q mutation seen in individuals with Catnu syndrome. Unexpected mRNA splicing leads to an in-frame deletion of exon 28 and loss of functional protein.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations