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Gene: Tbp MGI:101838

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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:
TATA box binding protein
Synonyms:
Gtf2d

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 Tbp 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 Tbp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria, Rigidity, M... OMIM:607136
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Gait disturbanc... ORPHA:98759
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia OMIM:611694
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Difficulty walking, Dysmetria, Progressive gait ataxia, Clumsiness,... ORPHA:284332
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Spastic paraparesis, Choreoathetosis, Ataxia ORPHA:67047
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Gait ataxia, Positive Romberg sign, Babinski sign, Gait disturbance, Gait instabi... OMIM:608984
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait di... ORPHA:363710
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiadochokinesis OMIM:615386
Spinocerebellar Ataxia Type 11
Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:98767
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculomotor apraxia, Unsteady gait, T... ORPHA:453521
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis OMIM:615159
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ... OMIM:616127
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... OMIM:617145
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor... ORPHA:504476
Myoclonic Epilepsy, Familial Infantile
Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia OMIM:605021
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Glanzmann Thrombasthenia 1
Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-IIIa, Subdural hemorr... OMIM:273800
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Spinocerebellar Ataxia 4
Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria, Rigidity, M... OMIM:607136
Spinocerebellar Ataxia 6
Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v... OMIM:183086
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... ORPHA:98772
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Gait disturbanc... ORPHA:98759
Ataxia-Telangiectasia-Like Disorder 1
Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor apraxia, Ataxia, Unst... OMIM:604391
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia OMIM:614229
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet a... OMIM:614201
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Ataxia With Vitamin E Deficiency
Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait disturbance, Ataxia, ... OMIM:277460
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time OMIM:177820
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Impaired ADP-induced platelet aggregation, Myocardial infarction, Prolonged bleeding t... OMIM:155100
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Prolonged bleeding... ORPHA:849
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Epistaxis, Gastrointestinal hemorrhage, Prolong... OMIM:231200
Factor V Deficiency
Epistaxis, Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Prothrombin Deficiency, Congenital
Epistaxis, Gastrointestinal hemorrhage, Prolonged prothrombin time, Joint hemorrhage, Prolonged b... OMIM:613679
Von Willebrand Disease, Type 3
Epistaxis, Joint hemorrhage, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Impaired platelet aggregation, Joi... OMIM:193400
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Gray Platelet Syndrome
Epistaxis, Impaired thrombin-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:139090
Hermansky-Pudlak Syndrome 7
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Hemophilia B
Joint hemorrhage, Prolonged bleeding time, Intracranial hemorrhage, Spontaneous, recurrent epistaxis ORPHA:98879
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Impaired collagen-induced platelet aggregation, Prolonged... OMIM:187900
Hermansky-Pudlak Syndrome 5
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:614074
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:601399
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Wiskott-Aldrich Syndrome
Epistaxis, Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level... OMIM:301000

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 Tbp

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 Tbp.

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

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MGI Allele Allele Type Produced
Tbptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tbptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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