Zp2^em1Zbw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zp2^em1Zbw
• Name: zona pellucida glycoprotein 2; endonuclease-mediated mutation 1, Zhen-Bo Wang
• MGI ID: MGI:7548521
• Synonyms: Zp2^T541M
• Gene: Zp2 Location: Chr7:119725995-119744514 bp, - strand Genetic Position: Chr7, 64.38 cM
• Alliance: Zp2^em1Zbw page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CT to TG substitution (c.1622-1623CT>TG) resulting in a threonine to methionine change at amino acid 541 (p.T541M) in exon 14. A c.1632G>A synonymous mutation was also introduced. This corresponds to the p.Thr539Met mutation identified in a human female with primary infertility. (J:342437)

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 Zp2 Mutation: 48 strains or lines available

References

• Original: J:342437 Liu SL, et al., A heterozygous ZP2 mutation causes zona pellucida defects and female infertility in mouse and human. iScience. 2023 Oct 20;26(10):107828
• All: 1 reference(s)