Tbc1d24^em4Tbf

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Species

Mus musculus

Symbol

Tbc1d24^em4Tbf

Category

allele

Allele of gene

Tbc1d24

Transgenic Constructs

None

Synonyms

• Tbc1d24^S178L

Description

CRISPR/Cas9 technology generated a CT to TG change at position 533-534 (c.533C>T, c.534T>G) resulting in a serine to leucine substitution at amino acid 178 (p.Ser178Leu). This is a pathogenic variant seen in patients with autosomal dominant nonsyndromic deafness 65.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations