Copb2^em2Rstot
Endonuclease-mediated Allele Detail

Summary

• Symbol: Copb2^em2Rstot
• Name: COPI coat complex subunit beta 2; endonuclease-mediated mutation 2, Rolf W Stottmann
• MGI ID: MGI:6107886
• Synonyms: Copb2^R254C
• Gene: Copb2 Location: Chr9:98445784-98470428 bp, + strand Genetic Position: Chr9, 51.4 cM, cytoband E3-F1
• Alliance: Copb2^em2Rstot page

Mutation origin

• Strain of Origin: C57BL/6 or DBA/2

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced an R254C missense mutation homologous to that seen in human patients. (J:252710)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Copb2 Mutation: 27 strains or lines available

References

• Original: J:252710 DiStasio A, et al., Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15;26(24):4836-4848
• All: 1 reference(s)