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Gene: Tnks1bp1 MGI:2446193

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Gene Summary

Name:
tankyrase 1 binding protein 1
Synonyms:
TAB182

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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
hyperactivity Tnks1bp1em1(IMPC)J HOM Early adult 5.45×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Tnks1bp1 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 Tnks1bp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Morm Syndrome
Hyperactivity ORPHA:75858
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Gand Syndrome
Hyperactivity OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756

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 Tnks1bp1

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 Tnks1bp1.

No publications found that use IMPC mice or data for Tnks1bp1.

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MGI Allele Allele Type Produced
Tnks1bp1em1(IMPC)J Exon Deletion Mice

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