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Allele : Tmc1<em1Ftpl> transmembrane channel-like gene family 1; endonuclease-mediated mutation 1, Robert Fettiplace

Primary Identifier  MGI:6715678 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tmc1
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing is used to introduce a T416K (AAC to AAG) mutation to exon 12 to modify residues near the putative channel pore. A silent mutation was also added to create a Dde1 restriction enzyme site. The mutation is homologous to the pathogenic human T422K mutation.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Tmc1 p.T416K,
  • Tmc1 p.T416K
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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