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Allele : Tbc1d24<em4Tbf> TBC1 domain family, member 24; endonuclease-mediated mutation 4, Thomas B Friedman

Primary Identifier  MGI:6490519 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 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.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Tbc1d24<S178L>,
  • Tbc1d24<S178L>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories