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Gene: Tcf12 MGI:101877

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.

Human diseases associated with Tcf12 (3 diseases)
Human diseases predicted to be associated with Tcf12 (177 diseases)

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

Disease	Matching phenotypes	Source
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, 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	Matching phenotypes	Source
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization	Seizure	OMIM:618113
Intellectual Developmental Disorder, X-Linked 96	Seizure	OMIM:300802
15q13.3 microdeletion syndrome	Seizure	DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3	Seizure	OMIM:605375
Autism, Susceptibility To, X-Linked 6	Seizure	OMIM:300872
Kifafa Seizure Disorder	Seizure	OMIM:245180
Mental Retardation, X-Linked 88	Seizure	OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3	Seizure	OMIM:612580
Intellectual Developmental Disorder, Autosomal Recessive 10	Seizure	OMIM:611096
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
Immunodeficiency 40	Lymphopenia	OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
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	Myoclonic tremor, Seizure	OMIM:618075
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy	OMIM:619164
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia	ORPHA:169079
Seizures, Benign Familial Infantile, 2	Generalized-onset seizure, Focal-onset seizure	OMIM:605751
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,...	OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ...	OMIM:619924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio...	OMIM:619313
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt...	OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Immunodeficiency 104	Lymphadenopathy, T lymphocytopenia, Splenomegaly	OMIM:608971
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure	OMIM:617080
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Epilepsy, Familial Temporal Lobe, 6	Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic...	OMIM:615697
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s...	OMIM:619846
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur...	OMIM:604403
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymphocytopenia, Absent ...	ORPHA:277
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Severe short stature, B lymphocytopenia	OMIM:619851
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
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl...	OMIM:613863
Myoclonic Epilepsy, Familial Infantile	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:605021
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia	OMIM:153600
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia	OMIM:619707
Mu-Heavy Chain Disease	Anemia, Lymphadenopathy, Abnormal B cell count, Splenomegaly	ORPHA:100024
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:613060
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Immunodeficiency 36	Lymphopenia, Enlarged tonsils, Splenomegaly, Short stature, B lymphocytopenia, Chronic lymphatic ...	OMIM:616005
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology	OMIM:609529
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count	OMIM:618982
Immunodeficiency 55	Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio...	OMIM:617827
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Decreased ...	OMIM:607594
Immunodeficiency 85 And Autoimmunity	Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Growth delay...	OMIM:619510
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha...	OMIM:301082
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Immunodeficiency 54	Adrenal insufficiency, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Splen...	OMIM:609981
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C...	OMIM:300853
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,...	OMIM:301078
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade...	OMIM:618534
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of...	OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope...	OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ...	OMIM:600802
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619375
Ataxia-Telangiectasia	Lymphopenia, Short stature, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leuk...	OMIM:208900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg...	OMIM:612541
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De...	OMIM:619374
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope...	OMIM:618048
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Burkitt Lymphoma	Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the...	ORPHA:543
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	ORPHA:35078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Hyp...	OMIM:606367
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Immunodeficiency 92	Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi...	OMIM:619652
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Communicating hyd...	OMIM:616084
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard...	OMIM:615190
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Abnormal B c...	ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm...	OMIM:102700
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
X-Linked Lymphoproliferative Disease	Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Cervical lymphadenopathy, Enlarged ...	ORPHA:2442
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation	ORPHA:563609
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Short stature, Hypoplasia of the thymus, Increased mean platelet volum...	ORPHA:84064
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Intrauterine growth retardation	OMIM:617022
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Intrauterine growth retardation, Cryptorchidism	OMIM:214110
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph node germinal ...	ORPHA:79124
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt...	ORPHA:906
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope...	ORPHA:572
Lymphoproliferative Syndrome 1	Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe...	OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Hypothyroidism, Generalized lymphad...	OMIM:614700
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Hypoplasia of the thymus, Peritoneal abscess, Type I diabetes me...	ORPHA:436252
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Thymic Aplasia	Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T...	ORPHA:83471
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic arm shortening, Neutropenia...	ORPHA:508542
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Aplasia of the thymus	ORPHA:3004
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te...	ORPHA:293978
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Decreased response to growth hormone stimulation test, Short stature, Abnorma...	OMIM:618223
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio...	ORPHA:911
Nijmegen Breakage Syndrome	Short stature, B lymphocytopenia, T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopeni...	OMIM:251260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells, Decreased response to growth hormone stimulation test, Delayed pubert...	OMIM:307200
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypoparathyroidism, Hydrocephalus, Hyperthyroidism, Splenomegaly, Short stature, ...	ORPHA:567
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Short stature, Hypergonadot...	ORPHA:2959
Hereditary Elliptocytosis	Cholelithiasis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elli...	ORPHA:288
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho...	ORPHA:391487
Treacher-Collins Syndrome	Cryptorchidism, Hypoplasia of the thymus, Branchial fistula, Abnormality of the adrenal glands, T...	ORPHA:861
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Cryptorchidism, Severe postnatal growth retardation, Severe B lymphocytopenia, Acces...	OMIM:620005
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Hypothyroidism, Neutr...	OMIM:607944
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Proteus-Like Syndrome	Hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, Communicating hydrocephalus, T...	ORPHA:2969
Agammaglobulinemia, X-Linked	B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia	OMIM:300755
Eec Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit...	ORPHA:1896
Digeorge Syndrome	Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Splenomegaly, ...	OMIM:188400
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help...	ORPHA:221139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyper...	ORPHA:83617
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio...	ORPHA:508533
Wiedemann-Rautenstrauch Syndrome	Increased serum testosterone level, Hydrocephalus, Short stature, Hypoplasia of the thymus, Crypt...	OMIM:264090
Monosomy 22	Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus	ORPHA:96123
Gaisböck Syndrome	Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, Follicular hyperplasia, B lymphocytopenia, T...	OMIM:619381
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele	ORPHA:2211
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Truncus Arteriosus	Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortical abnormality	ORPHA:3384
Alg12-Cdg	B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Intrauterine growth retardation, Decreased s...	ORPHA:79324
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Proteus Syndrome	Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neoplasm, Sireno...	ORPHA:744
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, 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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