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Allele : Thbs1<em1Rjda> thrombospondin 1; endonuclease-mediated mutation 1, Robert J D'Amato

Primary Identifier  MGI:7518774 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Thbs1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a C to T change (g.118123372C>T) resulting in an arginine to cysteine substitution at amino acid 1034 (p.R1034C). Missense alleles altering p.R1034 have been identified in families affected by congenital glaucoma.
  • mutations:
  • Single point mutation
  • synonyms:
  • Thbs1<R1034C>,
  • Thbs1<R1034C>
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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