Abcc9^em1Nich

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Species

Mus musculus

Symbol

Abcc9^em1Nich

Category

allele

Allele of gene

Abcc9

Transgenic Constructs

None

Synonyms

• SUR2^AV

Description

CRISPR/Cas9 technology using gRNA 5' CATTGCCACGAAGCTGGC-GG 3' introduced a C to T change at position 1427 resulting in an alanine to valine substitution at amino acid 476 (A476V). This corresponds to the human A478V mutation associated with Cantu Syndrome.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations