Gene Summary

Name:
protein kinase D2
Synonyms:
PKD2

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
decreased startle reflex Prkd2em1(IMPC)Hmgu HOM Early adult 2.22×10-18
decreased food intake Prkd2em1(IMPC)Hmgu HOM Early adult 2.65×10-05
decreased respiratory quotient Prkd2em1(IMPC)Hmgu HOM Early adult 8.64×10-06
abnormal brain morphology Prkd2em1(IMPC)Hmgu HOM Early adult 0.00
decreased prepulse inhibition Prkd2em1(IMPC)Hmgu HOM Early adult 7.27×10-14
persistence of hyaloid vascular system Prkd2em1(IMPC)Hmgu HOM Early adult 5.47×10-05
increased circulating alanine transaminase level Prkd2em1(IMPC)Hmgu HOM   Early adult 1.56×10-05

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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Prkd2 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 Prkd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:616452
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:613493
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Decreased circulating IgG level, Increased circulating interleuk... OMIM:618944
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced nat... OMIM:300400
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:618969
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia OMIM:613501
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM ORPHA:2643
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia OMIM:613502
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:331206
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgE level, Increased circula... OMIM:617241
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency 64
Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,... OMIM:618534
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Complete... OMIM:613496
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased lymphocyte proliferation in response t... ORPHA:35078
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia OMIM:601457
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating anti... OMIM:308240
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Bone marrow hypocellularity OMIM:618116
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Increased circulating IgE level, Absent specific antibody respon... OMIM:102700
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Immunodeficiency 52
Decreased circulating antibody level OMIM:617514
Alpha-Heavy Chain Disease
Dysgammaglobulinemia ORPHA:100025
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:210900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Macrocephaly/Autism Syndrome
Decreased circulating antibody level OMIM:605309
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:600903
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific antibody res... OMIM:614700
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity OMIM:615190
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgA, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Immunodeficiency 36
Decreased circulating antibody level OMIM:616005
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:300972
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased circulating antibody level OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia OMIM:602450
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia ORPHA:251009
Immunodeficiency 92
Decreased circulating IgA level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... ORPHA:2442
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma ORPHA:231736
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:209920
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619632
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Decreased circulating IgG level, Bone marrow hypocellularity, In... ORPHA:3261
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen OMIM:615122
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... ORPHA:90363
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:603909
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level ORPHA:275
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:301000
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... ORPHA:540
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation... ORPHA:572
Selective Igm Deficiency
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Reduced natural killer cell activity, Increased circulating antibo... OMIM:615559
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:125
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Roifman Syndrome
Decreased circulating antibody level ORPHA:353298
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating IgG level, ... ORPHA:276
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... ORPHA:74
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:169154
Hereditary Folate Malabsorption
Decreased circulating antibody level ORPHA:90045
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Griscelli Syndrome
Decreased circulating antibody level, Bone marrow hypocellularity ORPHA:381
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Autosomal Agammaglobulinemia
Agammaglobulinemia ORPHA:33110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased lymphocyte proliferati... OMIM:618986
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level OMIM:615952
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Complement deficiency, Paraproteinemia, Increased circul... ORPHA:91139
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level OMIM:226300
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Thymoma
Abnormal lymphocyte proliferation, Decreased circulating antibody level, Abnormal lymphocyte phys... ORPHA:99867
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased circulating IgA level, Increased circulating IgE level, Decreased lymphocyte proliferat... OMIM:606367
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Lassa Fever
Increased circulating IgM level ORPHA:99824
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Popov-Chang syndrome
Decreased circulating antibody level OMIM:618428
X-Linked Agammaglobulinemia
Agammaglobulinemia ORPHA:47
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Good Syndrome
Decreased circulating antibody level ORPHA:169105
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Decrea... OMIM:618131
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T ... OMIM:242840
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... OMIM:120200
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgM level, Increased circulating IgG level OMIM:615816
Ataxia-Telangiectasia
Decreased circulating IgA level, Defective B cell differentiation, Decreased circulating IgG leve... OMIM:208900
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mitogen, Decre... OMIM:619381
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Panhypogammaglobulinemia, Abnormal serum interleukin level ORPHA:79124
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Alg12-Cdg
Complete or near-complete absence of specific antibody response to tetanus vaccine, Partial absen... ORPHA:79324
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregat... ORPHA:79329
Agammaglobulinemia, X-Linked
Agammaglobulinemia OMIM:300755
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Decreased lymphocyte proliferation in response to mitogen, Impa... OMIM:613179
Orotic Aciduria
Impaired T cell function OMIM:258900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Re... OMIM:614643
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Bone marrow hypocellularity OMIM:617303
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Decreased T cell activation, Inc... OMIM:618213
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level OMIM:248500
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia OMIM:307200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cowden Syndrome 1
Decreased circulating antibody level OMIM:158350
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level ORPHA:293978
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Decreased circulating antibody l... ORPHA:3132
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level OMIM:613385
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... ORPHA:449432
Common Variable Immunodeficiency
Decreased circulating antibody level ORPHA:1572
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Exaggerated... OMIM:253800
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level OMIM:613327
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Tay-Sachs Disease
Optic atrophy, Dysphagia, Exaggerated startle response, Tremor, Increased serum beta-hexosaminidase ORPHA:845
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function ORPHA:1830
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity ORPHA:505248
Autoimmune Polyendocrinopathy Type 4
Decreased circulating antibody level ORPHA:227990
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Whim Syndrome
Decreased circulating antibody level ORPHA:51636
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level ORPHA:79396
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Nijmegen Breakage Syndrome
Dysgammaglobulinemia OMIM:251260
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level OMIM:223370
Autoimmune Polyendocrinopathy Type 3
Decreased circulating antibody level ORPHA:227982
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 level ORPHA:79078
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617527
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Decreased circulating antibody level, Bone marrow hypocellularity OMIM:615688
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Exaggerated startle response, Impaired oropharyngeal swallow response ORPHA:521426
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Trichothiodystrophy
Panhypogammaglobulinemia ORPHA:33364
Cartilage-Hair Hypoplasia
Decreased circulating antibody level ORPHA:175
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma OMIM:221900
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level OMIM:274000
Primary Sjögren Syndrome
Cryoglobulinemia, Decreased serum complement C4, Decreased circulating antibody level, Complement... ORPHA:289390
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Coccidioidomycosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:228123
Hennekam Syndrome
Decreased circulating antibody level ORPHA:2136
Syndromic Diarrhea
Panhypogammaglobulinemia ORPHA:84064
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level ORPHA:247598
Lysinuric Protein Intolerance
Complement deficiency, Increased circulating antibody level, Decreased circulating antibody level... ORPHA:470
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Dysphagia ORPHA:637
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level ORPHA:99843
Sandhoff Disease
Exaggerated startle response OMIM:268800
Infection-Related Hemolytic Uremic Syndrome
Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... ORPHA:544482
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Yellow Fever
Increased circulating interleukin 6, Increased circulating IgM level ORPHA:99829
Brucellosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:1304
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM ORPHA:171
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Sponastrime Dysplasia
Decreased circulating antibody level ORPHA:93357
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma OMIM:300166
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma OMIM:619539
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Decreased circulating IgG level ORPHA:500150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Optic disc pallor, Exaggerated startle response, Decreased serum iron ORPHA:438213
Norrie Disease
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment, Ectopia lentis ORPHA:649
Digeorge Syndrome
Impaired T cell function OMIM:188400
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Dysphagia, Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level ORPHA:261552

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 Prkd2

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 Prkd2.

No publications found that use IMPC mice or data for Prkd2.

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MGI Allele Allele Type Produced
Prkd2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prkd2em1(IMPC)Hmgu Intra-exon deletion Mice

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