Slc26a4^em1Jgao

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Species

Mus musculus

Symbol

Slc26a4^em1Jgao

Category

allele

Allele of gene

Slc26a4

Transgenic Constructs

None

Synonyms

• L236P

Description

CRISPR/Cas9 technology generated a T to C change at position 707 (c.T707C) resulting in an leucine to proline substitution at residue 236 (L236P). This is the most common mutation found in individuals with Pendred syndrome.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations