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Allele : Hars1<em1Gebai> histidyl-tRNA synthetase 1; endonuclease-mediated mutation 1, Ge Bai

Primary Identifier  MGI:7645905 Allele Type  Endonuclease-mediated
Gene  Hars1 Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  Aspartic acid codon 364 (GAT) in exon 10 was changed to tyrosine (TAT) (p.D364Y) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. Mutations is the human ortholog are associated with Charcot-Marie-Tooth disease type 2W (CMT2W).
  • mutations:
  • Single point mutation
  • synonyms:
  • Hars<D364Y>,
  • Hars<CMT2W>,
  • Hars<D364Y>,
  • Hars<CMT2W>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele