Actl9^em1Glin
Endonuclease-mediated Allele Detail

Summary

• Symbol: Actl9^em1Glin
• Name: actin-like 9; endonuclease-mediated mutation 1, Ge Lin
• MGI ID: MGI:6693352
• Synonyms: Actl9^Mut
• Gene: Actl9 Location: Chr17:33651873-33653242 bp, + strand Genetic Position: Chr17, 17.98 cM
• Alliance: Actl9^em1Glin page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C change resulting in a valine to leucine substitution which is analogous to the human pathogenic p.Val380Leu variant found in a family with a male presenting with total fertilization failure. (J:303517)

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 Actl9 Mutation: 20 strains or lines available

References

• Original: J:303517 Dai J, et al., Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. Am J Hum Genet. 2021 Mar 4;108(3):469-481
• All: 1 reference(s)