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Gene: Prkce MGI:97599

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein kinase C, epsilon
Synonyms:
Pkce,  PCK epsilon,  PKCepsilon,  PKC[e],  5830406C15Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Prkce 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 Prkce by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... OMIM:616873
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Sepsi... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu... ORPHA:572
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... OMIM:308230
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Recurrent bacterial infections, Incre... OMIM:618048
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cerebral vasculi... OMIM:243700
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... ORPHA:2688
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Panhypogammaglobulinemia,... OMIM:307200
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... OMIM:300291
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Selective Igm Deficiency
Cellulitis, Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased cir... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased... OMIM:613179
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:612964
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ... OMIM:615468
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Se... OMIM:606367
46,Xy Sex Reversal 11
Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy... OMIM:273250
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea OMIM:617442
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Increased circu... ORPHA:48435
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Mirage Syndrome
Sepsis, Microphallus, Recurrent urinary tract infections, Decreased testicular size, Cryptorchidi... OMIM:617053
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Premature Ovarian Failure 18
Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t... OMIM:619203
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Aortic ... OMIM:603585
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia ... OMIM:233710
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Amelogenesis imperfecta, Recurrent bacterial... OMIM:617475
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia ... OMIM:233690
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circ... OMIM:620565
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Whim Syndrome
Cellulitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent ... ORPHA:51636
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Amelogenesis imperfecta, ... ORPHA:169090
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hyp... OMIM:615300
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Dilated cardiomyop... OMIM:242840
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno... OMIM:619665
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir... OMIM:102700
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurr... ORPHA:486
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent gram-negative bacter... OMIM:116920
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Hypotension, Abnormality of the Leydig cells, Abnorma... ORPHA:168558
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Tricuspid regurgitation... OMIM:300972
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recu... OMIM:610984
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Hypotension, Abnormality of the Leydig cells, Abnorma... ORPHA:289548
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Elevated circulating creatinine concentration, Hypopl... OMIM:154230
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Abnormal... ORPHA:99104
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Cryptorchidism, Hypocalcemia, Recurrent bacterial infections, Micropenis, Hypo... OMIM:241410
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia ... OMIM:306400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Inguina... OMIM:612541
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Epistaxis, Recurrent r... ORPHA:167
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Shock, Decreased testicular size, Hypogo... ORPHA:90794
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Abnormality of T cell physiology, Hypocalcemia, Aplasia of the ... ORPHA:2237
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Sepsis OMIM:612840
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... OMIM:619381
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level, Inguinal hernia OMIM:248500
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Hypoprot... OMIM:603554
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin, Camptodactyly of finger, Polycystic o... ORPHA:2176
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Elevated circulat... OMIM:615895
Amed Syndrome, Digenic
Bone marrow hypocellularity, Hypoplasia of the uterus OMIM:619151
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Decreased fertility, Cryptorchidism, Polycystic ovaries, Enlarged poly... ORPHA:90796
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Third degree atrioventricular block, Dilated cardiomyopathy, ... OMIM:619573
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Small vessel vasculitis ORPHA:36412
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea OMIM:146255
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Recurrent otitis... ORPHA:244
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemia, ... ORPHA:79259
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Sickle Cell Disease
Recurrent bacterial infections, Hypertension, Hypoxemia, Priapism OMIM:603903
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Patent Urachus
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections ORPHA:431341
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Recurrent systemic pyogenic infections, Recurrent infections, R... OMIM:214500
Estrogen Resistance
Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Chromomycosis
Recurrent bacterial infections, Atypical scarring of skin ORPHA:182
Shwachman-Diamond Syndrome
Hypoamylasemia, Bone marrow hypocellularity, Recurrent viral infections, Sepsis, Increased serum ... ORPHA:811
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Microp... OMIM:241080
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Cyanosis, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Cystic Fibrosis
Absent vas deferens, Recurrent respiratory infections, Recurrent Burkholderia cepacia infections,... ORPHA:586
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas... OMIM:110100
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea ORPHA:785
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis multiplex congenita OMIM:616258
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadism, Decreased testicular size, Streak ovary, Hyperlipidemia, Abnormal ... ORPHA:3464
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia, Hypertension OMIM:232220
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocyto... OMIM:309801
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Inguinal hernia, Aplasia of the vagina OMIM:271520
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Hypoplasia of the uterus, Bicor... OMIM:601186
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia ... OMIM:614527
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Bone marrow hypocellularity OMIM:614083
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Congenital diaphragmatic hernia, Aplasia of the uterus, Ambiguous ... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Cryptorchidism, Ovarian cyst,... OMIM:201750
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Decreased circulating antibody level, Patent ductus arteriosus OMIM:274000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat... ORPHA:572333
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Atretic vas deferens, Epididymal cy... OMIM:137920
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea ORPHA:69085
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Abnormal dental enamel morphology, Ing... ORPHA:2273
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Loeys-Dietz Syndrome
Atypical scarring of skin, Uterine rupture, Camptodactyly of finger, Cardiac arrest, Patent ductu... ORPHA:60030
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Omphalocele, Hypoplasia of the uterus, Clitoral hyp... OMIM:618419
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Cigarette-paper scars, Uterine rupture, Arterial rupture, Cystocele,... OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Umbilical hernia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal... OMIM:135900
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Cryptorchi... OMIM:256520
Okamoto Syndrome
Bifid uterus, Aortic valve stenosis, Omphalocele ORPHA:2729
Vascular Ehlers-Danlos Syndrome
Cigarette-paper scars, Uterine rupture, Umbilical hernia, Transient ischemic attack, Cystocele, C... ORPHA:286
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology, Omphalocele OMIM:236680
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism OMIM:194190
Townes-Brocks Syndrome 1
Bifid scrotum, Umbilical hernia, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovagina... OMIM:107480
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Hypertr... OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Elbow flexion contracture, Cryptorchidism, Aplasia of the uterus, Anteriorly displ... OMIM:276820
Peters Plus Syndrome
Umbilical hernia, Inguinal hernia, Cryptorchidism, Pulmonic stenosis, Hypoplasia of the uterus, H... ORPHA:709
Norrie Disease
Erectile dysfunction, Uterine rupture, Cryptorchidism ORPHA:649
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Fasciitis, Corneal scarring, Orthostatic hypotension due to autonomic ... ORPHA:642
Peters-Plus Syndrome
Umbilical hernia, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Pulmonic st... OMIM:261540

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 Prkce

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 Prkce.

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

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
Prkcetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prkcetm42417(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prkcetm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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