Zp3^em1Sgao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Zp3^em1Sgao
• Name: zona pellucida glycoprotein 3; endonuclease-mediated mutation 1, Shaorong Gao
• MGI ID: MGI:7639701
• Synonyms: Zp3^mut
• Gene: Zp3 Location: Chr5:136008959-136017478 bp, + strand Genetic Position: Chr5, 75.62 cM
• Alliance: Zp3^em1Sgao page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A T nucleotide was inserted after the first nucleotide of arginine codon 350 (CGA) and the last nucleotide was changed from A to T, changing it to leucine (CTG) and creating a frameshift and premature stop codon (TAA) immediately after (c.1049_1050delGAinsTGT:p.R350Lfs*2), using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of a similar human mutation (NM_001110354.1:c.1045_1046insT:p.R349Lfs*2) associated with female infertility. (J:302592)

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 Zp3 Mutation: 40 strains or lines available

References

• Original: J:302592 Liu W, et al., Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility. Hum Genet. 2017 Aug;136(8):975-985
• All: 1 reference(s)