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Gene: Dennd1b MGI:2447812

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Gene Summary

Name:
DENN/MADD domain containing 1B
Synonyms:
F730008N07Rik,  4930467M19Rik,  6820401H01Rik,  4632404N19Rik

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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.

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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 Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 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 Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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Download thumbnail Download
DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Dennd1btm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Dennd1btm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Dennd1btm1a(EUCOMM)Hmgu
HOM, Male, WTSI
Dennd1btm1a(EUCOMM)Hmgu
HOM, Male, WTSI
Dennd1btm1a(EUCOMM)Hmgu
HOM, Male, WTSI

View all 96 images

Dennd1btm1a(EUCOMM)Hmgu
Fused cornea and lens, HOM, Female, WTSI
Dennd1btm1a(EUCOMM)Hmgu
Fused cornea and lens, HOM, Female, WTSI
Dennd1btm1a(EUCOMM)Hmgu
abnormal retinal pigmentation, HOM, Male, WTSI
Dennd1btm1a(EUCOMM)Hmgu
abnormal retinal pigmentation, HOM, Male, WTSI
Dennd1btm1a(EUCOMM)Hmgu
abnormal retinal pigmentation, HOM, Male, WTSI

View all 9 images

Human diseases caused by Dennd1b 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 Dennd1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Recurrent respirato... OMIM:615615
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly... OMIM:619924
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Bronchiectasis, Incr... OMIM:618982
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Absence of ly... ORPHA:277
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells,... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... OMIM:613101
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... OMIM:619164
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... OMIM:242700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Increased circulating IgG level, ... OMIM:618495
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:603909
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an... OMIM:618108
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, T... ORPHA:101096
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Bronchiolitis obli... OMIM:300755
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Reticulonodular pattern on pulmo... ORPHA:133
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Increased circulating I... ORPHA:443811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Recurrent lower respirato... OMIM:209920
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Tooth abscess, Decreased proportion of tran... ORPHA:331235
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Recurrent streptococcus pneumoniae inf... ORPHA:83471
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:275
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Ab... OMIM:181000
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Recurrent respiratory infections, Splenomegaly ORPHA:30
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Abnormal cytoki... ORPHA:158048
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hepatomegaly, Splenomegaly OMIM:201100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237

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 Dennd1b

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 Dennd1b.

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) Dennd1btm1a(EUCOMM)Hmgu PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dennd1btm1a(EUCOMM)Hmgu PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dennd1btm1a(EUCOMM)Hmgu PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dennd1btm1a(EUCOMM)Hmgu PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dennd1btm1a(EUCOMM)Hmgu