Tbc1d24^em3Tbf

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Species

Mus musculus

Symbol

Tbc1d24^em3Tbf

Category

allele

Allele of gene

Tbc1d24

Transgenic Constructs

None

Synonyms

• Tbc1d24^D70Y

Description

CRISPR/Cas9 technology generated a G to T change a position 208 (c.208G>T) resulting in an aspartate to tyrosine substitution at amino acid 70 (p.Asp70Tyr). This is a pathogenic variant seen in patients with autosomal recessive nonsyndromic deafness 86.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations