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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
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Broad-based... OMIM:607136
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... ORPHA:98759
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, 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
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
Ataxia, Abasia, Inability to walk OMIM:209100
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 4
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... ORPHA:98765
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Cerebellar Ataxia, Cayman Type
Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait OMIM:601238
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia ORPHA:94122
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia OMIM:617769
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Dystonia With Cerebellar Atrophy
Torticollis, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia OMIM:604432
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Intention tremor, Dysmetria, Diff... ORPHA:284332
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia OMIM:615159
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... OMIM:128230
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... ORPHA:98811
Spinocerebellar Ataxia Type 11
Abnormal pyramidal sign, Gait imbalance, Difficulty walking, Progressive cerebellar ataxia, Dystonia ORPHA:98767
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Intention tremor OMIM:608029
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 14
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Unsteady gait, Intention tremor OMIM:615386
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Broad-based gai... OMIM:616127
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations OMIM:183050
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Impaired tandem gait, Limb ataxia, Ataxia OMIM:605021
Spinocerebellar Ataxia 29
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand... OMIM:117360
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Dystonia 9
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia OMIM:601042
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephri... OMIM:615888
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Dysdiadochokinesis, Babinski sign, Dysmetria, Vestibular areflexia, Progressive cere... ORPHA:504476
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls OMIM:617691
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Spinocerebellar Ataxia 4
Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia, Babinski sign OMIM:600223
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Broad-based... OMIM:607136
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... ORPHA:98772
Spinocerebellar Ataxia 6
Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee... OMIM:183086
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... ORPHA:98759
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia OMIM:614229
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Clumsiness, Gait disturbance, Ataxia, Positive Romberg sign, Impaired proprio... OMIM:277460
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time OMIM:614158
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Bernard-Soulier Syndrome
Epistaxis, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Gastrointes... OMIM:231200
Factor V Deficiency
Epistaxis, Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Prothrombin Deficiency, Congenital
Epistaxis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Prolonged bleeding time, Join... OMIM:613679
Von Willebrand Disease, Type 3
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation, Joint hemorrhage OMIM:277480
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, A... OMIM:193400
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Gray Platelet Syndrome
Epistaxis, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired coll... OMIM:139090
Hermansky-Pudlak Syndrome 7
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Epistaxis, Gastrointestinal hemorrhage, Prolon... OMIM:187900
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Joint hemorrhage ORPHA:98879
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:601399
Hermansky-Pudlak Syndrome 5
Epistaxis, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614074
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, Bradykinesia OMIM:168600
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Small vessel vasculitis, L... 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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