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Allele : Tbc1d24<em3Tbf> TBC1 domain family, member 24; endonuclease-mediated mutation 3, Thomas B Friedman

Primary Identifier  MGI:6490517 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tbc1d24
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tbc1d24<D70Y>,
  • Tbc1d24<D70Y>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele