Copg1^em1Geha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Copg1^em1Geha
• Name: coatomer protein complex, subunit gamma 1; endonuclease-mediated mutation 1, Raif Geha
• MGI ID: MGI:7611910
• Synonyms: Copg1^K652E
• Gene: Copg1 Location: Chr6:87864801-87890577 bp, + strand Genetic Position: Chr6, 39.13 cM
• Alliance: Copg1^em1Geha page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Lysine codon 652 (AAA) in exon 19 was changed to glutamic acid (GAA) (c.1954A>G:p.K652E) using an sgRNA and an ssODN template with CRISPR/Cas9. The mutation, in the appendage domain of the encoded peptide, is the equivalent of the same human mutation associated with combined immunodeficiency (CID). (J:345528)

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 Copg1 Mutation: 50 strains or lines available

References

• Original: J:345528 Bainter W, et al., Combined immunodeficiency due to a mutation in the gamma1 subunit of the coat protein I complex. J Clin Invest. 2021 Feb 1;131(3)
• All: 1 reference(s)