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Allele : Otc<em1Bshep> ornithine transcarbamylase; endonuclease-mediated mutation 1, Ben Shepherd

Primary Identifier  MGI:6384615 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Otc
Strain of Origin  NOD.Cg-Prkdc<scid> Il2rg<tm1Wjl>/SzJ Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 129 altering arginine to histidine (R129H; CG to CA) in exon 4. This mutation was identified as a human early-onset ornithine transcarbamylase deficiency associated variant allele.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Otc<R129H>,
  • Otc<R129H>
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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