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Gene: Dcbld2 MGI:1920629

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

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.

Anti-nuclear antibody assay

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Dcbld2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Dcbld2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Dcbld2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Dcbld2tm1a(KOMP)Wtsi
HOM, Female, WTSI
Dcbld2tm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 86 images

Dcbld2tm1a(KOMP)Wtsi
abnormal cornea morphology, HOM, Male, WTSI
Dcbld2tm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

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
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
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Dystonia 31
Abnormal posturing OMIM:619565
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis OMIM:128100
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Cardiomegaly, Antinuclear antibody positivity, Autoimmu... ORPHA:99931
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Pneumonia, Abnormal retinal vascular morph... ORPHA:247691
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Abnormal posturing OMIM:614857
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Abnormal posturing, Left ventricula... OMIM:242840
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Enlarged vertebral... OMIM:139210
Unilateral Polymicrogyria
Abnormal posturing, Abnormal heart morphology ORPHA:268943
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... 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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