Registered for phenotyping at IMPC

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

Gene Summary

Name:
kelch-like 6
Synonyms:
N/A

IMPC Data Collections

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

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.

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 Klhl6 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 Klhl6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Absence of lymph node... ORPHA:277
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... OMIM:618986
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG le... ORPHA:331206
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 92
Decreased circulating IgA level, Decreased circulating IgG level, Lymphocytosis, Leukocytosis, He... OMIM:619652
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, ... OMIM:102700
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D... OMIM:300853
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Enlarged ... OMIM:606367
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly, Decrea... ORPHA:35078
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis OMIM:615415
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, Absent peripheral lymph nodes in presence of infection, Panhypogammaglobulinemia, T ... OMIM:600802
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... ORPHA:699
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227990
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227982
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess... OMIM:601495
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-pos... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Lymphopenia, Decreased circul... OMIM:620005
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... ORPHA:293978
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Asplenia OMIM:240300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Asplenia, Biliary tract abnormality OMIM:156810
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Decreased circulating total IgA, Decreased circulating total... ORPHA:221139
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, Decreased c... OMIM:619381
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology OMIM:618223
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Cystic liver disease, Pancrea... ORPHA:564
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Severe B lymphocytopenia, Decreased circulating total IgM, B lympho... ORPHA:83617
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... OMIM:249000
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia OMIM:306955
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia OMIM:265380
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus OMIM:270100
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Increased T cell count ORPHA:797
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia 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 Klhl6

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 Klhl6.

No publications found that use IMPC mice or data for Klhl6.

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MGI Allele Allele Type Produced
Klhl6em1(IMPC)Ccpcz Exon Deletion Mice
Klhl6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Klhl6tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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