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Gene: Tcf12 MGI:101877

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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:
transcription factor 12
Synonyms:
HEB,  ME1,  HTF4,  HEBAlt,  bHLHb20,  REB,  ALF1,  HTF-4

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 Tcf12 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.

The table below shows human diseases associated to Tcf12 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Craniosynostosis 3
OMIM:615314
Non-Syndromic Bicoronal Craniosynostosis
ORPHA:35099

The table below shows human diseases predicted to be associated to Tcf12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia OMIM:153600
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, B lymphocytopenia OMIM:619851
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Growth delay, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia... OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 54
Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenocorticotropic h... OMIM:609981
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... OMIM:615966
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreased pr... OMIM:607594
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphocytopenia, Bone... OMIM:301078
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Postnatal growth retardation, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy ORPHA:397596
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocyto... OMIM:208900
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity OMIM:609054
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
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
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... OMIM:617827
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Immunodeficiency 40
Growth delay, T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... OMIM:615190
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Short stature OMIM:242860
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:613011
Syndromic Diarrhea
Short stature, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocyt... ORPHA:84064
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia... OMIM:618223
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short stature, Abnor... ORPHA:443811
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, ... ORPHA:436252
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... ORPHA:276
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... ORPHA:508542
Joubert Syndrome 15
Exencephaly OMIM:614464
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc... ORPHA:391487
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Short stature, Hypergonadotropic hypogonadism, Microcytic anemia, Insul... ORPHA:2959
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Absent circulating B cells,... OMIM:307200
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Growth delay, Hypoplasia of the thymus, Umbilical hernia OMIM:613177
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... OMIM:607944
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Short stature, Abnormality of the tonsils, Spina bifida, Spl... ORPHA:567
Agammaglobulinemia, X-Linked
T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Anemia, Severe postnatal growth retar... OMIM:620005
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia o... ORPHA:861
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Short stature, T lymphocytopenia, B lymphocytopenia, Intrauterine gr... OMIM:251260
Polyendocrine-Polyneuropathy Syndrome
Short stature, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypogonadotropic hypogonad... OMIM:616113
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Vici Syndrome
Postnatal growth retardation, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutrope... OMIM:242840
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla... ORPHA:2969
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Digeorge Syndrome
Short stature, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegal... OMIM:188400
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help... ORPHA:221139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Disproportionate short stature, Hypereosinophilia, ... ORPHA:508533
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Postnatal growth retardation, Biliary hyperplasia, Cryptorchidism, B ly... ORPHA:83617
Gaisböck Syndrome
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased h... ORPHA:90041
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, T l... OMIM:619381
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Wiedemann-Rautenstrauch Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Hypoplasia of the thymus, Increased serum testoster... OMIM:264090
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Cryptorchidism, B lymphocytopenia, Intrauterine gro... ORPHA:79324
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess OMIM:600145
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, H... OMIM:620186
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Craniosynostosis 3
OMIM:615314
Non-Syndromic Bicoronal Craniosynostosis
ORPHA:35099

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 Tcf12

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 Tcf12.

No publications found that use IMPC mice or data for Tcf12.

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