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Allele : Pigv<em1Pmk> phosphatidylinositol glycan anchor biosynthesis, class V; endonuclease-mediated mutation 1, Peter M Krawitz

Primary Identifier  MGI:6717209 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Hypomorph Gene  Pigv
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology introduced a C to A change at position 1022 (c.1022C>A) resulting in an alanine to glutamate substitution at amino acid 341 (p.A341E). Three additional silent mutations were identified. This is the most prevalent hypomorphic missense mutation in European individuals with glycosylphosphatidylinositol (GPI)-anchor biosynthesis deficiency.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pigv<341E>,
  • Pigv<341E>
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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