Gene Summary

Name:
discoidin, CUB and LCCL domain containing 2
Synonyms:
CLCP1,  Esdn,  1700055P21Rik

IMPC Data Collections

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
trunk curl Dcbld2tm1a(KOMP)Wtsi HOM Early adult 2.04×10-05
increased heart weight Dcbld2tm1a(KOMP)Wtsi HOM Early adult 3.65×10-10
increased anti-nuclear antigen antibody level Dcbld2tm1a(KOMP)Wtsi HOM Early adult 0.00
abnormal vertebral arch morphology Dcbld2tm1a(KOMP)Wtsi HOM   Early adult 4.87×10-05
decreased circulating fructosamine level Dcbld2tm1a(KOMP)Wtsi HOM Early adult 2.41×10-08

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.

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 86 images

Human diseases caused by Dcbld2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dcbld2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Eales Disease
Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Transient isch... ORPHA:40923
Dystonia 31
Abnormal posturing OMIM:619565
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis OMIM:128100
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi... ORPHA:99931
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Atrial septal defect OMIM:614857
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing ORPHA:225147
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Vici Syndrome
Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Left ventricular hypertrophy, Atrial ... OMIM:242840
Myhre Syndrome
Aortic valve stenosis, Platyspondyly, Enlarged vertebral pedicles, Ventricular septal defect, Sho... OMIM:139210
Unilateral Polymicrogyria
Abnormal heart morphology, Abnormal posturing ORPHA:268943
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Mitral val... ORPHA:666

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 Dcbld2

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 Dcbld2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dcbld2tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dcbld2tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dcbld2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dcbld2tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dcbld2tm1a(KOMP)Wtsi PMC5827107

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
Dcbld2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dcbld2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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