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Gene: Tfb1m MGI:2146851

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transcription factor B1, mitochondrial
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tfb1m 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tfb1m by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Neural tube defect OMIM:615041
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration OMIM:311000
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Usher Syndrome, Type 1M
Optic disc pallor, Left ventricular hypertrophy, Drusen OMIM:618632
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy ORPHA:3456
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Eales Disease
Macular edema, Myelopathy, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epi... ORPHA:40923
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Encephalocele ORPHA:65
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Spina bifida, Ventricular septal defect ORPHA:2345
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma ORPHA:3265
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Joubert Syndrome 14
Optic atrophy, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Morning glor... OMIM:614424
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hydrocephalus ORPHA:31
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Optic atrophy, Decreased amplitude of sensory action pot... OMIM:229300
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Triploidy
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, ... ORPHA:3376
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta ORPHA:2437
Amish Lethal Microcephaly
Optic atrophy, Spina bifida ORPHA:99742
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Neurocutaneous Melanocytosis
Meningocele, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2481
Waardenburg Syndrome Type 1
Aganglionic megacolon, Meningocele, Spina bifida ORPHA:894
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Meningocele, Anomalous p... ORPHA:2311
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Situs inversus totalis, Encephalocele, Spina bifida, Menin... ORPHA:991
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida, Retinal coloboma ORPHA:2839
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Ven... ORPHA:99776
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnor... ORPHA:255210
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, ... ORPHA:508498
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... ORPHA:63259
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele OMIM:130720
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Trisomy 18
Intrauterine growth retardation, Abnormality of retinal pigmentation, Ventricular septal defect, ... ORPHA:3380
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal optic disc morphology, Subretinal deposits, Meningocele, Retina... ORPHA:397715
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Aq... ORPHA:3412
Knobloch Syndrome 1
Occipital encephalocele, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary a... OMIM:267750
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Occipital meningocele, Atrial septal defect, Hydrocephalus, Anencephaly OMIM:616546
Trisomy 20P
Spina bifida, Abnormal autonomic nervous system physiology, Umbilical hernia ORPHA:261318
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Focal Dermal Hypoplasia
Chorioretinal coloboma, Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardi... ORPHA:2092
Fumarase Deficiency
Decreased fumarate hydratase activity, Optic atrophy, Perimembranous ventricular septal defect OMIM:606812
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
22Q11.2 Deletion Syndrome
Optic atrophy, Umbilical hernia, Retinal arteriolar tortuosity, Tetralogy of Fallot, Intrauterine... ORPHA:567
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypopigmentation of the fundus, Spina bifida OMIM:193500
Fanconi Anemia
Abnormality of chromosome stability, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of ... ORPHA:84
Hallermann-Streiff Syndrome
Optic disc coloboma, Spina bifida, Chorioretinal coloboma OMIM:234100
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Spina bifida ORPHA:2874
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Retinal detachment, Spina bifida, Chorioretinal lacunae OMIM:304050
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aor... ORPHA:363958
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurofibromatosis, Type I
Neurofibroma, Pheochromocytoma, Plexiform neurofibroma, Hydrocephalus, Spina bifida, Aqueductal s... OMIM:162200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Patent fo... OMIM:256520
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Pigmentary retinopathy, Hydrocephalus OMIM:277400
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Nail-Patella Syndrome
Spina bifida OMIM:161200
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
Arima Syndrome
Optic atrophy, Occipital meningocele, Chorioretinal coloboma, Retinal dystrophy OMIM:243910
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:274000
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Occipital meningocele OMIM:277170
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... OMIM:192350
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Spina bifida, Unilateral facial palsy OMIM:619480
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Campomelic Dysplasia
Abnormal heart morphology, Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Marfan Syndrome
Mitral valve prolapse, Tricuspid valve prolapse, Mitral valve calcification, Retinal detachment, ... ORPHA:558
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Abnormality of per... OMIM:601992
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipital meningocele, Optic nerve hy... OMIM:610829
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Pulmonic stenosis OMIM:134780
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida OMIM:304120
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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 Tfb1m

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 Tfb1m.

No publications found that use IMPC mice or data for Tfb1m.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tfb1mtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tfb1mtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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