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Allele : Slc26a5<em1Kazh> solute carrier family 26, member 5; endonuclease-mediated mutation 1, Kazuaki Homma

Primary Identifier  MGI:7541599 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Hypomorph Gene  Slc26a5
Strain of Origin  FVB/NJ Is Recombinase  false
Is Wild Type  false
molecularNote  Arginine codon 130 (AGA) in exon 5 was changed to serine (AGT) (c.390A>T, p.R130S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation (c.390A>C) associated with bilateral sensorineural hearing loss. An additional silent mutation (c.387A>G, p.S129S) was introduced to create a diagnostic XhoI restriction site, replacing the wildtype Hpy188III site.
  • mutations:
  • Single point mutation
  • synonyms:
  • R130S-prestin,
  • R130S-prestin
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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

2 Publication categories

Trail: Allele