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Allele : Slc26a4<em2Chch> solute carrier family 26, member 4; endonuclease-mediated mutation 2, Chen-Chi Wu

Primary Identifier  MGI:7254859 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Slc26a4
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Using an sgRNA (targeting ATTTTTTACGGCAATGTCGA) and an ssODN template with CRISPR/Cas9 technology, cysteine codon 565 (TGT) in exon 15 was changed to tyrosine (TAT) (c.1694G>A, p.C565Y); also, two silent mutations were introduced to create a diagnostic AclI restriction site. This mutation mimics a human mutation associated with sensorineural hearing impairment (SNHI) but doesn't cause deafness in mouse.
  • mutations:
  • Single point mutation
  • synonyms:
  • Slc26a4<C565Y>,
  • Slc26a4<C565Y>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

2 Publication categories

Trail: Allele