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
hypoalgesia Tecpr2em1(IMPC)J HOM   Early adult 0.000284 *
increased thermal nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 6.19×10-05 *
hyperactivity Tecpr2em1(IMPC)J HOM   Early adult 2.57×10-14
increased vertical activity Tecpr2em1(IMPC)J HOM Early adult 3.06×10-07
decreased mechanical nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 0.000333 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

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 Dorso Ventral

4 Images

X-ray

XRay Images Skull Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Forepaw

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

Auditory Brain Stem Response

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

8 Images

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
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Dysmetria ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Cerebral atrophy, Spastic gait, Dysmetria 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Steppage gait, Gait disturbance OMIM:616155
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Axonal degeneration, Steppage gait, Axonal degeneration/regenerat... OMIM:614436
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Immunodeficiency 8
Hyperactivity OMIM:615401
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Diaminopentanuria
Ataxia, Neurodegeneration OMIM:222350
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, P... OMIM:615490
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Onion bulb formation, Tip-toe gait... OMIM:302800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Optic atrophy OMIM:610951
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:615889
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Ataxia, Axonal degeneration, ... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... OMIM:208920
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Ataxia, Axonal degene... OMIM:604168
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Motor axonal neuropathy, Neurodegeneration, Tip-toe gait OMIM:615643
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Ataxia, Cerebral cor... OMIM:617672
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Neurodegeneration, A... OMIM:612319
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Ataxia, Abnormality of periphera... ORPHA:88628
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration, Decreas... OMIM:604320
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebella... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Global brain atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy OMIM:616811
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait,... OMIM:256600
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:300894
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Neurodegeneration, Optic atrophy OMIM:615491
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Krabbe Disease
Peripheral demyelination, Decreased nerve conduction velocity, Diffuse cerebral atrophy, Neurodeg... OMIM:245200
Morm Syndrome
Hyperactivity ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Global brain atrophy, Ataxia, Axonal degeneration, Scissor gait, Optic atrophy OMIM:278800
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Exaggerated startle response ORPHA:309246
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Neurodegeneration, Unsteady gait OMIM:615919
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy of the spinal cord, Spastic gait, Axonal degeneration, At... ORPHA:139399
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Juvenile Huntington Disease
Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Glycine Encephalopathy
Hyperactivity OMIM:605899
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Exaggerated startle response OMIM:272750
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Hsd10 Disease, Infantile Type
Cerebral atrophy, Loss of ability to walk, Diffuse cerebral atrophy, Neurodegeneration, Frontotem... ORPHA:391428
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Neurodegeneration, Broad-based gait, Gait disturbance ORPHA:79244
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Facial palsy, Neurodegeneration, Neuronal loss in central nervous system, Opt... OMIM:616239
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurodegeneration, Ataxia, Gait distu... OMIM:614298
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Ataxia, Neurodegeneration OMIM:618321
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Gait ataxia, Dysdiadochokines... OMIM:610217
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia OMIM:612716
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration, Optic atrophy OMIM:618476
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Global brain atrophy, Optic neuropathy, Ataxia, Decreased nerve conduction ve... ORPHA:909
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Neurodegeneration OMIM:300100
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Cerebral Visual Impairment
Central nervous system degeneration, Optic nerve hypoplasia, Optic disc pallor, Neurodegeneration... ORPHA:447788
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Neurodegeneration OMIM:606159
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Shuffling gait ORPHA:3077
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Neurodegeneration, Ataxia, Gait ataxia, Gait disturbance, Optic atrophy OMIM:616878
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk ORPHA:500180
Trigeminal Neuralgia
Allodynia ORPHA:221091
Histidinemia
Hyperactivity ORPHA:2157
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia, Neurodegeneration, Gait disturbance OMIM:214500
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Multiple System Atrophy 1, Susceptibility To
Ataxia, Neurodegeneration OMIM:146500
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Neurodegeneration With Brain Iron Accumulation 1
Neurodegeneration, Global brain atrophy, Akinesia, Ataxia, Gait disturbance, Optic atrophy, Cereb... OMIM:234200
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:52503
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema OMIM:309900
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Dysmetria ORPHA:320385
Benign Schwannoma
Allodynia ORPHA:252164
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Cerebral atrophy, Spastic gait, Dysmetria OMIM:615031
Hurler Syndrome
Neurodegeneration OMIM:607014
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Peripheral demyelination, Neurofibromas, Ataxia, Tip-toe gait, Neurodegeneration, Falls, Broad-ba... OMIM:619475
Argininemia
Hyperactivity, Spastic gait OMIM:207800
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
Tecpr2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tecpr2em1(IMPC)J Exon Deletion Mice

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