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Copb2em1Rstot
Endonuclease-mediated Allele Detail
Summary
Symbol: Copb2em1Rstot
Name: COPI coat complex subunit beta 2; endonuclease-mediated mutation 1, Rolf W Stottmann
MGI ID: MGI:6107885
Synonyms: Copb2Zfn
Gene: Copb2  Location: Chr9:98445784-98470428 bp, + strand  Genetic Position: Chr9, 51.4 cM, cytoband E3-F1
Alliance: Copb2em1Rstot page
Mutation
origin
Strain of Origin:  C57BL/6 or DBA/2
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsZinc finger nuclease mediated mutation created a 5bp deletion in exon 12 resulting in a premature stop codon ten amino acids downstream of the deletion. (J:252710)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
Notes
All endonuclease-mediated gene targeting was done in embryos "from a mixed C57BL/6; DBA/2 background. (C57BL/6 x DBA/2, 2nd generation)." (J:252710)
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory