Pabpc1l^em3Lwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pabpc1l^em3Lwa
• Name: poly(A) binding protein, cytoplasmic 1-like; endonuclease-mediated mutation 3, Lei Wang
• MGI ID: MGI:7491693
• Synonyms: Pabpc11^R374Q
• Gene: Pabpc1l Location: Chr2:163867370-163892458 bp, + strand Genetic Position: Chr2, 84.6 cM
• Alliance: Pabpc1l^em3Lwa page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 1121 (p.1121G>A) resulting in an arginine to glutamine substitution at amino acid 374 (R374Q). 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. R374Q is a variant identified in a family with female infertility. (J:336445)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pabpc1l Mutation: 33 strains or lines available

References

• Original: J:336445 Wang W, et al., Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility. EMBO Mol Med. 2023 Jun 7;15(6):e17177
• All: 1 reference(s)