Gene Summary

Name:
transcription factor 4
Synonyms:
SEF-2,  E2-2,  5730422P05Rik,  MITF-2A,  ITF-2,  TFE,  SEF2-1,  ITF-2b,  bHLHb19,  E2.2,  MITF-2B,  ASP-I2,  ME2

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Tcf4tm1a(EUCOMM)Wtsi HET Early adult 4.58×10-05
preweaning lethality, incomplete penetrance Tcf4tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Histopathology

Images

2 Images

Legacy Phenotype Associated Images

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View all 18 images

View all 6 images

Human diseases caused by Tcf4 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 Tcf4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pitt-Hopkins Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Microcephaly, Motor stere... OMIM:610954
Pitt-Hopkins Syndrome
Small cerebral cortex, Gait ataxia, Microcephaly, Failure to thrive, Ataxia, Self-injurious behav... ORPHA:2896
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly ORPHA:171
Corneal Dystrophy, Fuchs Endothelial, 3
OMIM:613267
Fuchs Endothelial Corneal Dystrophy
ORPHA:98974

The table below shows human diseases predicted to be associated to Tcf4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Hypoplasia o... OMIM:604213
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Unilateral polymicrogyria, Agene... OMIM:610031
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro... OMIM:614019
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Coloboma Of Macula
Macular coloboma OMIM:120300
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Macrocephaly, Aggressive behavior, Abnormal fear-induced behavior, Cortical dysplasia, Microcepha... ORPHA:208441
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Subcortical band heter... OMIM:615771
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... OMIM:619924
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Lissencephaly 3
Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Microcephaly, Agenesis of corpus callo... OMIM:611603
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Hypoplastic anteri... ORPHA:171680
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum ORPHA:85179
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... OMIM:240500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Hypoplasia of the corpus callosum, Irritability, Inability to walk, Optic nerve hypoplasia, Short... OMIM:617864
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dila... OMIM:600348
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Craniotelencephalic Dysplasia
Lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum OMIM:218670
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:603909
Leukodystrophy, Hypomyelinating, 13
Secondary microcephaly, Irritability, Delayed brainstem auditory evoked response conduction time,... OMIM:616881
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614833
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum OMIM:619955
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum ORPHA:2512
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Craniotelencephalic Dysplasia
Microcephaly, Lissencephaly, Septo-optic dysplasia, Agenesis of corpus callosum ORPHA:1528
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary microcephaly, Partial agen... OMIM:604804
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Agenesis of corpus callosum, Corticospinal tract hypoplasia OMIM:307000
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Immunodeficiency 96
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... OMIM:619774
Microphthalmia, Syndromic 11
Agenesis of corpus callosum OMIM:614402
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Ataxia, Dis... ORPHA:1020
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Asparagine Synthetase Deficiency
Thin corpus callosum, Progressive microcephaly, Optic nerve hypoplasia, Microcephaly, Primary mic... OMIM:615574
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Periventricular white matter hyperintensities, Secondary microcephaly OMIM:619737
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:2524
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Developmental And Epileptic Encephalopathy 68
Microcephaly, Failure to thrive, Cerebral cortical atrophy, Exaggerated startle response OMIM:618201
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Lymphopenia, T lymphocytopenia, Hepatosplenomegaly, Aplasia of ... OMIM:242700
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Progressive microcephaly, Multifoc... ORPHA:488627
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum OMIM:614120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypoplasia of the frontal lobes ORPHA:163985
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... ORPHA:2388
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Cerebral calcification, Dandy-Walker ma... OMIM:617281
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypoplasia of the corpus callosum, Secondary microcephaly, Agitation, Truncal titubation, Tremor,... OMIM:618056
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Hypoplasia of the corpus callosum, Agitation, Thin corpus callosum, Irrit... OMIM:620423
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat... OMIM:619179
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Tay-Sachs Disease
Global brain atrophy, Inability to walk, Memory impairment, Depression, Tremor, Hypointensity of ... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response, Dementia OMIM:272750
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Primary mi... ORPHA:357058
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hypoplasia of the corpus callosum, Depression, Inability to walk, Exaggerated startle response OMIM:620114
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Restlessnes... ORPHA:100924
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Cessatio... OMIM:617527
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Difficulty walking, Exaggerated startle response ORPHA:320406
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startl... OMIM:268800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Focal polymicrogyria, Partial agenesis of the corpus callosum, Microc... OMIM:619103
Plaa-Associated Neurodevelopmental Disorder
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hypsarrhythmia, Cerebral white mat... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Hypoplasia of the c... OMIM:614924
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Hyperintensity of cerebral white matter... ORPHA:544488
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum OMIM:618569
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell... ORPHA:1830
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes OMIM:300607
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus c... ORPHA:314679
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Dysphagia, Exaggerated startle response, Hypoplasia of the corpus callosum OMIM:617301
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... OMIM:614576
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Dysgyria, Tremor, Exaggerated startle response, Cerebral c... OMIM:620327
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Hypoplasia of the corpus callosum, Irritability, Exaggerated startle response, Microcephaly, Dysp... OMIM:618367
Combined Oxidative Phosphorylation Deficiency 58
Thin corpus callosum, Difficulty walking, Exaggerated startle response, Gait ataxia, Microcephaly... OMIM:620451
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Progressive macrocephaly, Exaggerated startle response ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Polyphagia, Fixated interests, Dystonia, Motor stere... OMIM:620330
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the pyramidal tract, Exaggerated sta... OMIM:253800
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abdominal obesity, Obesity, Abnormal fear-induced behavior OMIM:219090
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Secondary microcephaly, Polymicrogyria, Colpocephaly, Agenesis of cor... OMIM:618820
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Secondary microcephaly, Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compul... ORPHA:353281
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum OMIM:151050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... OMIM:618131
Gm1 Gangliosidosis Type 1
T2 hypointense basal ganglia, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Exagg... ORPHA:79255
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Motor stereotypy, Hair-pulling, Dysphagia ORPHA:447997
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Zttk Syndrome
Dysplastic corpus callosum, Periventricular leukomalacia, Abnormal cerebral white matter morpholo... OMIM:617140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Abnorm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Abnorm... ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Isch... ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Monosomy 22Q13.3
Hyperactivity, Bruxism, Impaired pain sensation, Hair-pulling ORPHA:48652
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum ORPHA:466791
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Pancytopenia OMIM:181000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoplasia of the corpus callosum, Inability to walk, Broad-based gait, Exaggerated startle respo... ORPHA:438213
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cortical dysplasia, Microcephaly, ... OMIM:613406
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microcephaly, Dysphagia, Motor stereotypy, Attention deficit hypera... OMIM:619522
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function ORPHA:567
Pitt-Hopkins Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, Microcephaly, Motor stere... OMIM:610954
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pitt-Hopkins Syndrome
Small cerebral cortex, Gait ataxia, Microcephaly, Failure to thrive, Ataxia, Self-injurious behav... ORPHA:2896
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly OMIM:188400
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly ORPHA:171
Fuchs Endothelial Corneal Dystrophy
ORPHA:98974
Corneal Dystrophy, Fuchs Endothelial, 3
OMIM:613267

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 Tcf4

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 Tcf4.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse. Development (Cambridge, England) (July 2021) Tcf4tm1a(EUCOMM)Wtsi PMC8327186
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tcf4tm1a(EUCOMM)Wtsi PMC7263671
Transcription factor Tcf4 is the preferred heterodimerization partner for Olig2 in oligodendrocytes and required for differentiation. Nucleic acids research (May 2020) Tcf4tm1a(EUCOMM) PMC7229849
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tcf4tm1a(EUCOMM)Wtsi