Cylc1^em2Chnsr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cylc1^em2Chnsr
• Name: cylicin, basic protein of sperm head cytoskeleton 1; endonuclease-mediated mutation 2, Su-Ren Chen
• MGI ID: MGI:7628716
• Gene: Cylc1 Location: ChrX:110154024-110169624 bp, + strand Genetic Position: ChrX, 48.2 cM, cytoband D
• Alliance: Cylc1^em2Chnsr page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 mediated recombination using guide RNAs created a G to T mutation at position 1407. The change is homologous to a variant in human patients with male infertility. (J:347872)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Cylc1 Mutation: 4 strains or lines available

References

• Original: J:347872 Jin HJ, et al., Disruption in CYLC1 leads to acrosome detachment, sperm head deformity, and male in/subfertility in humans and mice. Elife. 2024 Apr 4;13
• All: 1 reference(s)