Gins3^em1Pcamp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gins3^em1Pcamp
• Name: GINS complex subunit 3; endonuclease-mediated mutation 1, Philippe Campeau
• MGI ID: MGI:7464047
• Synonyms: Gins3^D24N
• Gene: Gins3 Location: Chr8:96360187-96371687 bp, + strand Genetic Position: Chr8, 47.12 cM
• Alliance: Gins3^em1Pcamp page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: Exon 1 was targeted with an sgRNA and ssODN template using CRISPR/Cas9 technology to change aspartic acid codon 24 (GAC) to asparagine (AAC) (p.D24N). The mutation mimics the human NM_022770.2: c.70G>A, p.(Asp24Asn) mutation found in some Meier-Gorlin syndrome patients. (J:331868)

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 Gins3 Mutation: 9 strains or lines available

References

• Original: J:331868 McQuaid ME, et al., Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. JCI Insight. 2022 May 23;7(10):e155648
• All: 1 reference(s)