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Allele : Pabpc1l<em2Lwa> poly(A) binding protein, cytoplasmic 1-like; endonuclease-mediated mutation 2, Lei Wang

Primary Identifier  MGI:7491692 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Pabpc1l
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a CG to TT change at position 410-411 (c.410_411delCGinsTT) resulting in a serine to phenylalanine substitution at amino acid 137 (S137F). In addition, a synonymous AAG to AAA p.K95 mutation and CAG to GAA p.E373 mutation were introduced to avoid gRNA recognition and excision. S137F is a variant identified in a family with female infertility.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pabpc11<S137F>,
  • Pabpc11<S137F>
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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