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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
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 Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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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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Histopathology

Images

2 Images

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X-ray

XRay Images Forepaw

15 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
Microcephaly, Gait ataxia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the cor... OMIM:610954
Pitt-Hopkins Syndrome
Ataxia, Aggressive behavior, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia... ORPHA:2896
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... 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/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy 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, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
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
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... OMIM:610031
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Coloboma Of Macula
Macular coloboma OMIM:120300
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... OMIM:615771
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Lissencephaly, X-Linked, 1
Pachygyria, Agenesis of corpus callosum, Agyria, Lissencephaly OMIM:300067
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... ORPHA:3077
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... 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
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Lissencephaly 3
Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... OMIM:611603
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:85179
Lissencephaly Due To Tuba1A Mutation
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... ORPHA:171680
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Band Heterotopia
Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr... OMIM:600348
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inabili... OMIM:617864
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Absent septum pellucidum, Lissencephaly OMIM:218670
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... OMIM:616881
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Autosomal Recessive Primary Microcephaly
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Lissencephaly, Microcephaly ORPHA:1528
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Microphthalmia, Syndromic 11
Agenesis of corpus callosum OMIM:614402
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... ORPHA:1020
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... ORPHA:255138
Asparagine Synthetase Deficiency
Caudate atrophy, Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Hypoplasia o... OMIM:615574
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Holoprosencephaly 11
Agenesis of corpus callosum, Microcephaly OMIM:614226
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:2524
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Cerebral cortical atrophy, Microcephaly OMIM:618201
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Septooptic Dysplasia
Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum OMIM:614120
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
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
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Choreoacanthocytosis
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... ORPHA:2388
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Exaggerated startle response... OMIM:617281
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro... OMIM:618056
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Chorea, Dystonia OMIM:272750
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hypoplasia of the corpus callosum, Depression OMIM:620114
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... ORPHA:845
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... ORPHA:357058
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Abnormal cortical gyration, Cessation of head growth, Dysphagia, Hy... OMIM:617527
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking ORPHA:320406
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature... OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep... ORPHA:521426
Roifman Syndrome
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... ORPHA:314679
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes OMIM:300607
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia OMIM:617301
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia 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
Exaggerated startle response, Tremor, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasi... OMIM:620327
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Microcephaly, Irritability, Hypoplasia of the corpus callosum, Dysp... OMIM:618367
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Sandhoff Disease, Infantile Form
Exaggerated startle response, Progressive macrocephaly, Cerebral cortical atrophy ORPHA:309155
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hypoplasia of the brains... OMIM:253800
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... OMIM:618820
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly 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
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, T2 hypointense basal ganglia, Diffuse whi... ORPHA:79255
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Zttk Syndrome
Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno... OMIM:617140
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ... ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum ORPHA:466791
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Dystonia, Absent septum pellucidum, Inability to ... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, ... OMIM:619522
Witteveen-Kolk Syndrome
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... OMIM:613406
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia ORPHA:567
Pitt-Hopkins Syndrome
Microcephaly, Gait ataxia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the cor... OMIM:610954
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pitt-Hopkins Syndrome
Ataxia, Aggressive behavior, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia... ORPHA:2896
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... 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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