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Gene: Kdelr1 MGI:1915387

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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:
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
Synonyms:
8030486F04Rik

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 Kdelr1 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 Kdelr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Reticular Dysgenesis
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 24
Decreased CD4:CD8 ratio, Recurrent viral infections, Severe varicella zoster infection, Reduced p... OMIM:615897
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections OMIM:233650
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections OMIM:616941
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Lymphadenopathy, C... OMIM:212050
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent bacterial men... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T c... OMIM:618987
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... ORPHA:169079
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... ORPHA:169154
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Decreased proportion of class-switched ... OMIM:619126
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Lymphopenia... OMIM:619773
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... OMIM:619846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... OMIM:603554
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... OMIM:619313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent infections, Increased proportion of memory T cells, Hepato... OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent upper respir... ORPHA:277
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... OMIM:618806
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Recur... OMIM:615707
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... OMIM:612260
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... OMIM:601457
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... OMIM:619707
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Recurrent infections, Increased B cell count OMIM:616452
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Persistent EBV viremia, Recurrent sinusi... OMIM:620282
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... OMIM:612692
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Recurrent infections, Lymphadenopathy, Hepatosplenomegaly, Red... OMIM:618261
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Severe vari... OMIM:301082
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil ... OMIM:618986
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tons... OMIM:616005
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibo... OMIM:607594
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... OMIM:615214
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Lymphad... ORPHA:331235
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec... OMIM:602450
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, T lymphocytopenia, B lymphocytopenia, Reduced... OMIM:618108
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Lymphadenop... ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Hepatome... OMIM:301078
Immunodeficiency 44
Post-vaccination measles, Lymphopenia, Severe viral infection OMIM:616636
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased prop... OMIM:615206
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytope... OMIM:619281
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis, Recurrent infections OMIM:615592
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... ORPHA:276
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis OMIM:618969
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent candida infections, Hep... ORPHA:169160
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Cutaneous abscess, Recurrent upper respiratory tract infections, Decrease... OMIM:618944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Lymphadenopathy, Recurrent bacterial infecti... OMIM:618048
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Crypto... OMIM:612541
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, T lymphocytopenia, Decreased proportion... OMIM:619510
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections, B lymphoc... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Delayed puberty, Recurrent infections ORPHA:477814
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... OMIM:615966
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells OMIM:615767
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly,... OMIM:620210
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia OMIM:153600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Ch... ORPHA:572
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... OMIM:601495
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, Leukocytosis, BCGosis, ... OMIM:619652
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Recurrent viral infections, Splenomegaly, Lymphad... OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Immunodeficiency 9
Hypoplasia of the thymus, BCGitis, Recurrent infections OMIM:612782
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Cervical lymphaden... ORPHA:2686
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Rec... OMIM:301045
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... OMIM:208900
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... ORPHA:760
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Splenomegaly, Lymphadenopathy, Decreased CD... OMIM:607271
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u... OMIM:616100
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Ataxia-Telangiectasia
Recurrent respiratory infections, Diabetes mellitus, Abnormal testis morphology, Polycystic ovari... ORPHA:100
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Hepatocellular carcinom... OMIM:300755
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of the tonsi... ORPHA:229717
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Recurrent enteroviral infections, A... ORPHA:79124
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candi... OMIM:610163
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade... OMIM:614700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Invasive fungal infection, Increased T ce... ORPHA:98813
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Immunodeficiency 40
Hepatomegaly, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T l... OMIM:616433
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:619752
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased basophil count, Decreas... OMIM:618394
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Recurrent sinopulmonary infections, Decreased proportion of class-switched memory ... OMIM:614878
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i... ORPHA:158048
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Increased mean corpuscular vol... OMIM:619774
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:614162
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Recurrent infections, Abnormality of ... ORPHA:84064
Immunodeficiency, Common Variable, 14
Recurrent sinusitis, Decreased proportion of class-switched memory B cells OMIM:617765
Sneddon Syndrome
Lymphopenia OMIM:182410
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Icf Syndrome
Anemia, Recurrent respiratory infections, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... ORPHA:391487
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Recurrent infections, Hydrocele testis, Recurrent otitis media, Lymph... OMIM:605309
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy... ORPHA:100026
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Chronic oral candidiasis, Decrease... OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Recurrent infections, Anemia, Lymphadenopathy, Lymphopenia, Thrombocy... OMIM:617591
Ebola Hemorrhagic Fever
Acute pancreatitis, Sepsis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Recurrent absce... ORPHA:436252
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorch... OMIM:617053
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Follicular hyperplasia, Recurrent infections, Paratracheal lymp... OMIM:615934
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, Ly... ORPHA:1572
Legionnaires Disease
Splenomegaly, Recurrent pharyngitis, Jaundice, Sepsis, Hepatitis, Lymphadenopathy, Bone marrow hy... ORPHA:549
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of the pancreas ORPHA:935
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Cryptococcal meningitis, Abnormal lymphatic vessel morphology, Opportunistic... ORPHA:90362
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Recurrent infections, Neutropenia OMIM:616395
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus OMIM:214110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
Whim Syndrome
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma... ORPHA:51636
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Recurrent infections OMIM:617425
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... OMIM:620005
Avian Influenza
Meningitis, Sepsis, Hepatitis, Leukopenia, Lymphopenia, Infectious encephalitis, Thrombocytopenia ORPHA:454836
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent bronchitis, Recurrent ... OMIM:251260
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypothyroidism OMIM:617575
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thromb... OMIM:301074
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia, Sepsis ORPHA:247353
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Peritonitis, U... ORPHA:228119
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Recurrent infections, Hydrocele testis, Ovarian cyst, Ovarian carci... OMIM:158350
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentr... OMIM:242900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... OMIM:615688
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia... OMIM:607944
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Thrombocytopenia, Recurrent infections, Decreased proportion o... ORPHA:1830
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Recurrent... OMIM:619381
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenom... OMIM:188400
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent... ORPHA:125
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Alg12-Cdg
Recurrent respiratory infections, Decreased serum insulin-like growth factor 1, Recurrent ear inf... ORPHA:79324
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hy... ORPHA:567
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Lymphopenia, Hypothyroidism, Anemia OMIM:616541
Noonan Syndrome 14
Cryptorchidism, Lymphopenia OMIM:619745
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C... ORPHA:83617
Lujo Hemorrhagic Fever
Leukocytosis, Fulminant hepatitis, Severe viral infection, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Microsporidiosis
Brain abscess, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymp... ORPHA:2552
Isotretinoin-Like Syndrome
Lymphopenia ORPHA:2306
Hennekam Syndrome
Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymp... ORPHA:2136
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia OMIM:619708
Secondary Intestinal Lymphangiectasia
Lymphopenia, Cirrhosis, Secondary hyperaldosteronism, Recurrent infections ORPHA:90363
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Increased serum testosterone level, Hypoplasia of the thymus, C... OMIM:264090
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Thyroiditis, Biliary cirrhosis, Lymphaden... ORPHA:289390
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Severe infection, Jaundice, Neutrophilia in presence of i... ORPHA:99826
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism... OMIM:620186
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744

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 Kdelr1

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 Kdelr1.

No publications found that use IMPC mice or data for Kdelr1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kdelr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kdelr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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