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Allele : Ctps1<em1Slat> cytidine 5'-triphosphate synthase 1; endonuclease-mediated mutation 1, Sylvain Latour
Primary Identifier  MGI:7657750 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ctps1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a G to C substitution that corresponds to the c.16921G>C mutation causing CTPS1 immunodeficiency in human.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ctps1<ki>,
  • Ctps1<ki>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories





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