Ctps1^em1Slat
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ctps1^em1Slat
• Name: cytidine 5'-triphosphate synthase 1; endonuclease-mediated mutation 1, Sylvain Latour
• MGI ID: MGI:7657750
• Synonyms: Ctps1^ki
• Gene: Ctps1 Location: Chr4:120397065-120427473 bp, - strand Genetic Position: Chr4, 56.52 cM
• Alliance: Ctps1^em1Slat 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 substitution that corresponds to the c.16921G>C mutation causing CTPS1 immunodeficiency in human. (J:348981)

Disease models

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 Ctps1 Mutation: 46 strains or lines available

References

• Original: J:348981 Soudais C, et al., Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice. Nat Commun. 2024 Mar 4;15(1):1982
• All: 1 reference(s)