Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 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 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Tnks1bp1em1(IMPC)J | Exon Deletion | Mice |
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