4930447C04Rik^em2Amp
Endonuclease-mediated Allele Detail

Summary

• Symbol: 4930447C04Rik^em2Amp
• Name: RIKEN cDNA 4930447C04 gene; endonuclease-mediated mutation 2, Alberto M Pendas
• MGI ID: MGI:7572574
• Synonyms: Six6os1^delta, Six6os1^delta10-21
• Gene: 4930447C04Rik Location: Chr12:72926967-72964742 bp, - strand Genetic Position: Chr12, 30.3 cM, cytoband C3
• Alliance: 4930447C04Rik^em2Amp page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting the 5 of exon 2 and the 3 of exon 3 generated an in-frame deletion of amino acids 10 to 21 (128 bp deletion). This deletion should block formation of the first SYCE1-4930447C04Rik binding interface. (J:314193)

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 4930447C04Rik Mutation: 29 strains or lines available

References

• Original: J:314193 Sanchez-Saez F, et al., Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility. Sci Adv. 2020 Sep;6(36)
• All: 1 reference(s)