Gene Summary

Name:
COPI coat complex subunit beta 2
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Forepaw

9 Images

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Copb2

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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