Copa^tm1.1Shum
Targeted Allele Detail

Summary

• Symbol: Copa^tm1.1Shum
• Name: coatomer protein complex subunit alpha; targeted mutation 1.1, Anthony K Shum
• MGI ID: MGI:7336745
• Synonyms: Copa^E241K
• Gene: Copa Location: Chr1:171910096-171949897 bp, + strand Genetic Position: Chr1, 79.54 cM
• Alliance: Copa^tm1.1Shum page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:288425
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: The codon-encoding residue 241 was mutated from glutamic acid to lysine (E241K) in exon 9. A loxP-flanked neomycin selection cassette was inserted downstream of exon 10. The neomycin cassette was removed via cre-mediated recombination. This is a variant found in one COPA syndrome family. (J:288425)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Copa Mutation: 76 strains or lines available

References

• Original: J:288425 Deng Z, et al., A Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome. J Immunol. 2020 May 1;204(9):2360-2373
• All: 2 reference(s)