Gene: Tecpr2 MGI:2144865

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Gene Summary

Name:
tectonin beta-propeller repeat containing 2
Synonyms:
4930573I19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased vertical activity Tecpr2em1(IMPC)J HOM Early adult 2.88×10-07
hyperactivity Tecpr2em1(IMPC)J HOM   Early adult 6.60×10-14

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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.

Phenotype associated images not available

Human diseases caused by Tecpr2 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 Tecpr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Gait ataxia, Dysmetria, Cerebral atrophy ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Gait ataxia, Dysmetria, Cerebral atrophy OMIM:615031

The table below shows human diseases predicted to be associated to Tecpr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Axonal degeneration, Degeneration of anterior horn cells, Decreased number of p... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Cerebral atrophy, Neurodegeneration, Ataxia, Bradykinesia, Cerebell... OMIM:615157
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Toe walking, Dec... OMIM:302800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic atrophy OMIM:610951
Sotos Syndrome 3
Hyperactivity OMIM:617169
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Motor axonal neuropathy... OMIM:615643
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Decreased number ... OMIM:208920
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Axonal loss, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebral cortical atrophy, Ce... OMIM:617672
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Peripheral axonal degeneration OMIM:162100
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebral atrophy, Neurodegeneration, Bradykinesia, Cerebellar atrophy OMIM:300894
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Difficulty walking, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, Atrophy/D... OMIM:612319
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degen... OMIM:616811
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Dysmetria, Attention deficit hyperactivity disorder, Ataxia OMIM:619191
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Gait disturbance, Ataxia, Abnormal sensory nerve conduction velocity, Axonal degener... ORPHA:88628
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Optic neuropathy, Axonal deg... ORPHA:478029
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neurodegeneration, Ataxia, Unsteady gait, Cerebellar atrophy, Decreased nerve c... OMIM:256600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Spastic Paraplegia 79, Autosomal Recessive
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Optic atrophy OMIM:615491
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cerebral atrophy, Exaggerated startle response, Neurodegeneration ORPHA:309246
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 70
Attention deficit hyperactivity disorder OMIM:618402
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Histidinemia
Hyperactivity ORPHA:2157
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Krabbe Disease
Decreased nerve conduction velocity, Neurodegeneration, Diffuse cerebral atrophy, Peripheral demy... OMIM:245200
Gm2-Gangliosidosis, Ab Variant
Dystonia, Cerebral atrophy, Exaggerated startle response, Neurodegeneration OMIM:272750
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Difficulty walking, Gait disturbance, Neurodegeneration, Arm dystonia, Broad... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngeal dystonia OMIM:606159
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the spinal cord, Spastic gait... ORPHA:139399
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Neurodegeneration, Abnormal lower motor neuron morphology, Ataxia, Ce... OMIM:614298
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Cerebral atrophy, Neurodegeneration, Bradykinesia, Cer... OMIM:610217
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Neurodegeneration, Cerebral atrophy, Ataxia OMIM:618321
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cerebral atrophy, Neurodegeneration, Frontotemporal cerebral a... ORPHA:391428
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Cerebellar atrophy, Facial palsy, Optic atrophy, Neuronal loss in central nerv... OMIM:616239
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration OMIM:609242
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Gand Syndrome
Hyperactivity OMIM:615074
Cerebral Visual Impairment
Neurodegeneration, Increased cup-to-disc ratio, Optic nerve hypoplasia, Central nervous system de... ORPHA:447788
Cerebrotendinous Xanthomatosis
Dystonia, Global brain atrophy, Gait disturbance, Ataxia, Cerebellar atrophy, Optic disc pallor, ... ORPHA:909
Adrenoleukodystrophy
Limb ataxia, Neurodegeneration, Truncal ataxia, Attention deficit hyperactivity disorder OMIM:300100
Mental Retardation, Autosomal Recessive 61
Hyperactivity OMIM:617773
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Ataxia, Neurodegeneration OMIM:618476
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Amyotrophic Lateral Sclerosis
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Cerebral atrophy, Neurodegeneration, Ataxia, Optic atrophy OMIM:616878
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Global brain atrophy, Gait disturbance, Neurodegeneration, Blepharospasm, Ata... OMIM:234200
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Fragile X Syndrome
Hyperactivity OMIM:300624
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, Hyperactivity ORPHA:485350
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Ataxia, Bradykinesia OMIM:146500
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Chediak-Higashi Syndrome
Gait disturbance, Neurodegeneration, Ataxia, Decreased nerve conduction velocity OMIM:214500
Mend Syndrome
Hyperactivity OMIM:300960
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity OMIM:618089
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity ORPHA:228402
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity OMIM:614613
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:391307
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema OMIM:309900
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity ORPHA:168491
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Mucopolysaccharidosis, Type Iiib
Hyperactivity OMIM:252920
13Q12.3 Microdeletion Syndrome
Hyperactivity ORPHA:412035
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Gait ataxia, Dysmetria, Cerebral atrophy ORPHA:320385
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Hurler Syndrome
Neurodegeneration OMIM:607014
Angelman Syndrome
Progressive gait ataxia, Broad-based gait, Hyperactivity OMIM:105830
Nijmegen Breakage Syndrome
Neurodegeneration, Hyperactivity OMIM:251260
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Gait ataxia, Dysmetria, Cerebral atrophy OMIM:615031
Mucopolysaccharidosis, Type Iiic
Hyperactivity OMIM:252930
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Glass Syndrome
Broad-based gait, Hyperactivity OMIM:612313
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity OMIM:256800
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Primrose Syndrome
Neurodegeneration OMIM:259050

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 Tecpr2

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 Tecpr2.

No publications found that use IMPC mice or data for Tecpr2.

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MGI Allele Allele Type Produced
Tecpr2em1(IMPC)J Exon Deletion Mice
Tecpr2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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