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Allele : Yars1<tm1.1Rwb> tyrosyl-tRNA synthetase 1; targeted mutation 1.1, Robert W Burgess
Primary Identifier  MGI:7257843 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Yars1
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  Glutamic acid codon 196 (GAG) in exon 5 was changed to lysine (AAG) (p.E196K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 5 using BAC RP23-57A20 with recombineering. The neo cassette was removed through subsequent cre-mediated recombination. The mutation is associated with dominant intermediate Charcot-Marie-Tooth (CMT) disease type C (CMTC) in humans.
  • mutations:
  • Single point mutation
  • synonyms:
  • Yars<E196K>,
  • Yars<E196K>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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6 Publication categories

Trail: Allele




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