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Allele : Tonsl<em1Tjch> tonsoku-like, DNA repair protein; endonuclease-mediated mutation 1, Tae-Joon Cho

Primary Identifier  MGI:6389087 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tonsl
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology was used to generate a C to T change in exon 18 resulting in an arginine to tryptophan mutation at amino acid 924 (R924W). This mutation corresponds to the human p.Arg934Trp variant found in patients with SPONASTRIME dysplasia. Two lines are reported, lines A and B, and line A has been chosen as the representative line and entered as this allele.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tonsl<Arg924Trp>,
  • Tonsl<Arg924Trp>
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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

3 Publication categories

Trail: Allele