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Allele : Slc26a4<em1Jgao> solute carrier family 26, member 4; endonuclease-mediated mutation 1, Jiangang Gao

Primary Identifier  MGI:6500762 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Slc26a4
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • L236P,
  • L236P
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories