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

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 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
Delayed puberty, Cryptorchidism, Hypogonadotropic hypogonadism 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
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
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 10
Seizure OMIM:614256
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
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
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
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 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Growth delay... OMIM:619846
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia OMIM:153600
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia, Severe short stature OMIM:619851
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased p... OMIM:620632
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Mu-Heavy Chain Disease
Splenomegaly, Anemia, Lymphadenopathy, Abnormal B cell count ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Cryptorchidism, Abnormal B cell morphology OMIM:616910
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Growth delay, Decreased proportion of CD4-positive helper T cells, Lymphopenia... OMIM:619510
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Immunodeficiency, Common Variable, 11
Growth delay, Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro... OMIM:607594
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Immunodeficiency 54
Postnatal growth retardation, Lymphadenopathy, Adrenocorticotropic hormone excess, Short stature,... OMIM:609981
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... OMIM:611926
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Intrauterine growth retardation, B lymphocytopenia, Abnormal natural killer cell morphology, T ly... OMIM:615966
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Short stature,... OMIM:208900
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Growth delay, ... OMIM:301078
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Severe short stature OMIM:618728
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Short stature, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count OMIM:613496
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ... OMIM:617237
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy ORPHA:397596
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Growth ... OMIM:612541
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Hypothyro... OMIM:620430
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Abnormal T cell ... OMIM:308240
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ... OMIM:606367
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormal lymph no... ORPHA:543
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Bone marrow hypocellularity, Intrauterine growth retardation OMIM:609054
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Immunodeficiency 40
Growth delay, Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Immunodeficiency 55
Postnatal growth retardation, Lymphadenopathy, Short stature, Lymphopenia, Intrauterine growth re... OMIM:617827
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Bone marrow hypocellularity, Leukopenia, Intrauterine growth retard... OMIM:615190
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Growth delay, Side... OMIM:616084
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased p... OMIM:613011
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiuretic hormone secr... ORPHA:79124
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation ORPHA:563609
Syndromic Diarrhea
Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Short stature, Splenome... ORPHA:84064
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi... OMIM:618223
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus OMIM:214110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim... ORPHA:436252
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Short stature, Bone marr... ORPHA:508542
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Joubert Syndrome 15
Exencephaly OMIM:614464
Nephronophthisis 9
Postnatal growth retardation, Anemia OMIM:613824
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormal T cell count, Sh... OMIM:307200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, T lymphocytopenia, Hypergonadotropic hypogonadism, Dec... ORPHA:2959
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Hypothyroidism, Short stature, Lymphopenia, Autoimmune thromb... OMIM:607944
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Growth delay, Umbilical hernia OMIM:613177
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe postnatal growth retardation, Hypothyroidism, Severe B lymphocyt... OMIM:620005
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Meningocele, Hydrocephalus, Abnormality of the tonsils, Hypop... ORPHA:567
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Encephalocele, Thyroid hypoplasia, Hypoplasia of the thymus, C... ORPHA:861
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth... ORPHA:391487
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h... OMIM:616113
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Short stature, Thrombocytopeni... OMIM:251260
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Vici Syndrome
Postnatal growth retardation, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:242840
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, P... ORPHA:2969
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, A... ORPHA:1896
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Short stature, Parathyroid hypo... OMIM:188400
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Hereditary Elliptocytosis
Postnatal growth retardation, Cholelithiasis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Sp... ORPHA:288
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Umbilical hernia, Reduced... ORPHA:221139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary h... ORPHA:83617
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hydrocephalus, Hypoplasia of the thymus, Short stature, Intra... OMIM:264090
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr... ORPHA:331235
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Alg12-Cdg
B lymphocytopenia, Thrombocytopenia, Decreased serum insulin-like growth factor 1, Intrauterine g... ORPHA:79324
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele OMIM:600145
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Proteus Syndrome
Ovarian neoplasm, Sirenomelia, Diabetes insipidus, Testicular neoplasm, Enlarged polycystic ovari... ORPHA:744
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619718
Non-Syndromic Bicoronal Craniosynostosis
ORPHA:35099
Craniosynostosis 3
OMIM:615314

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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