Gene: Copb2 MGI:1354962
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The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal retina vasculature morphology | Copb2em1(IMPC)Bay | HET | Early adult | 3.52×10-05 | ||
decreased locomotor activity | Copb2em1(IMPC)Bay | HET | Early adult | 6.44×10-05 | ||
decreased total body fat amount | Copb2em1(IMPC)Bay | HET | Early adult | 5.97×10-08 | ||
prenatal lethality | Copb2em1(IMPC)Bay | HOM | E18.5 | 0.00 | ||
preweaning lethality, complete penetrance | Copb2em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
decreased grip strength | Copb2em1(IMPC)Bay | HET | Early adult | 4.58×10-05 | ||
increased lean body mass | Copb2em1(IMPC)Bay | HET | Early adult | 1.35×10-08 |
Human diseases caused by Copb2 mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Copb2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Microcephaly 19, Primary, Autosomal Recessive | Simplified gyral pattern | OMIM:617800 | |
Autosomal Recessive Primary Microcephaly | Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum | ORPHA:2512 | |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay | Simplified gyral pattern | OMIM:619884 |
The table below shows human diseases predicted to be associated to Copb2 by phenotypic similarity.
IMPC related publications
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Copb2.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. | American journal of human genetics (August 2021) | Copb2em1(IMPC)Bay | PMC8456174 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Copb2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Copb2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Copb2em1(IMPC)Bay | Exon Deletion | Mice |
Copb2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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