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Gene: Tcf4 MGI:98506

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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

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IMPC Data Collections

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.

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

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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 Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Histopathology

Images

2 Images

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Legacy Phenotype Associated Images
Tcf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 110 images

Tcf4tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
fimbria hippocampus, decreased hippocampal fimbria size, HET, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HET, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HET, Male, WTSI

View all 18 images

Tcf4tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, right eye, HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
Fused cornea and lens, HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
left eye, abnormal retinal pigmentation, HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
left eye, abnormal retinal pigmentation, HET, Female, WTSI
Tcf4tm1a(EUCOMM)Wtsi
right eye, HET, Male, WTSI

View all 6 images

Tcf4tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Tcf4tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Tcf4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

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
Self-injurious behavior, Secondary microcephaly, Gait ataxia, Hypoplasia of the corpus callosum, ... OMIM:610954
Pitt-Hopkins Syndrome
Self-injurious behavior, Small cerebral cortex, Failure to thrive, Aplasia/Hypoplasia of the corp... ORPHA:2896
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, 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
Retinal dysplasia, Falciform retinal fold 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 dystrophy, Cone/cone-rod 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
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy 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
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal... OMIM:604213
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... OMIM:614039
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... ORPHA:101029
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... 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
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Polymicrogyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Agenesis of corpus ... OMIM:610031
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... 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
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Coloboma Of Macula
Macular coloboma OMIM:120300
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Aggressive behavior, Macroc... ORPHA:208441
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcepha... OMIM:608716
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dysgenesis of the basal ganglia, Focal polymicrogyria, Primary microcephaly, Cortical dysplasia, ... OMIM:615771
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... 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, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... 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
Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Focal EEG disch... 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 IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... 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
Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pac... OMIM:611603
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... ORPHA:300573
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum ORPHA:85179
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
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
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... 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
Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang... ORPHA:255182
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment, Exaggerated... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal 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
Cerebral cortical atrophy, Failure to thrive, Inability to walk, EEG with generalized slow activi... OMIM:617864
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Lateral ventricle dilatation, Agenesis of corpus ca... OMIM:600348
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Craniotelencephalic Dysplasia
Absent septum pellucidum, Lissencephaly, Agenesis of corpus callosum OMIM:218670
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Failure to thrive, Secondary microcep... OMIM:616881
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Autosomal Recessive Primary Microcephaly
Pachygyria, Microcephaly, 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, Septo-optic dysplasia, Lissencephaly, Agenesis of corpus callosum ORPHA:1528
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... OMIM:616900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:307000
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Immunodeficiency 96
Decreased circulating IgG level, 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
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... ORPHA:1020
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Hypoplasia o... ORPHA:255138
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Asparagine Synthetase Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Hypsarrhythmia, Cerebellar vermis hypo... OMIM:615574
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly OMIM:618010
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of t... ORPHA:2524
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Failure to thrive, Exaggerated startle response OMIM:618201
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... 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
Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Hair-pulling, Loss of ambulation, Lingual dy... ORPHA:2388
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Basal ganglia calcification, Cerebral calcification, Dysplastic cor... OMIM:617281
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Secondary microcephaly, Gait ataxia, Tremor, Hypoplasia of the corpus callosu... OMIM:618056
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, EEG with burst suppression, Hypoplasia of the corpus callosum, Irritabili... OMIM:620423
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Microcephaly 26, Primary, Autosomal Dominant
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pachygyria, Simplifi... OMIM:619179
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Tay-Sachs Disease
Mania, Memory impairment, Global brain atrophy, Depression, Laryngeal dystonia, Inability to walk... ORPHA:845
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cereb... ORPHA:357058
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Hypoplasia of the corpus callosum, Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Chorea, Exaggerated startle response OMIM:272750
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cerebral cortical atrophy, Cessation of head growth, Abnormal cortical gyration, Failure to thriv... OMIM:617527
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Sandhoff Disease
Ataxia, Impaired temperature sensation, Exaggerated startle response, Progressive psychomotor det... OMIM:268800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Plaa-Associated Neurodevelopmental Disorder
Leukoencephalopathy, Abnormal cortical gyration, Failure to thrive, Hypoplasia of the corpus call... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:614924
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus callosum, Hyperintensity o... 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
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... 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, Hypoplasia of the corpus callosum, Agenesis of corpus c... ORPHA:314679
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Glycine Encephalopathy With Normal Serum Glycine
Microcephaly, Dysphagia, Hypoplasia of the corpus callosum, Exaggerated startle response OMIM:617301
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
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
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Dysgyria, Tremor, Cerebellar hy... OMIM:620327
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Hypoplasia of the corpus callosum, Irritability, Microcephaly... OMIM:618367
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Microcephaly, Ataxia, Thin corpus callosum, Exaggerated startle ... 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
Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, P... 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, Hypoplasia of the brainstem, Agenesis of corpus callosum, ... OMIM:253800
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Obesity, Abnormal fear-induced behavior, Abdominal obesity OMIM:219090
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Secondary microcephal... 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
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Diffuse white matter abnormalities, T2 hypointense basal ganglia, 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
Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling ORPHA:447997
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Periventricular leukomalac... OMIM:617140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Self-injurious behavior, Failure to thrive, Abnormal fear-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Self-injurious behavior, Failure to thrive, Abnormal fear-in... ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Polymicrogyria, Ischemic strok... ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Monosomy 22Q13.3
Bruxism, Hyperactivity, 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
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Absent septum pellucidum, Hypoplasia of the corpus callosum,... ORPHA:438213
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Cortical dysplasia, ... OMIM:613406
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response, ... OMIM:619522
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Impaired T cell function ORPHA:567
Pitt-Hopkins Syndrome
Self-injurious behavior, Secondary microcephaly, Gait ataxia, Hypoplasia of the corpus callosum, ... OMIM:610954
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pitt-Hopkins Syndrome
Self-injurious behavior, Small cerebral cortex, Failure to thrive, Aplasia/Hypoplasia of the corp... ORPHA:2896
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia OMIM:188400
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, 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 PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tcf4tm1a(EUCOMM)Wtsi PMC6459510
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons. Molecular autism (March 2018) Tcf4tm1a(EUCOMM)Wtsi PMC5863811
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tcf4tm1a(EUCOMM)Wtsi PMC5827107
Isoform-Specific Expression and Feedback Regulation of E Protein TCF4 Control Dendritic Cell Lineage Specification. Immunity (December 2016) Tcf4tm1a(EUCOMM)Wtsi PMC5243153

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MGI Allele Allele Type Produced
Tcf4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tcf4tm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Tcf4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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