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Gene: Tecpr2 MGI:2144865

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Gene Summary

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

Order Alleles

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
decreased mechanical nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 0.000333 *
increased thermal nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 6.19×10-05 *
increased vertical activity Tecpr2em1(IMPC)J HOM Early adult 2.93×10-07
hyperactivity Tecpr2em1(IMPC)J HOM   Early adult 2.35×10-14
hypoalgesia Tecpr2em1(IMPC)J HOM   Early adult 0.000284 *

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
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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 Skull Dorso Ventral Orientation

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 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 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, Dysmetria, Cerebral atrophy, Gait ataxia ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Dysmetria, Spastic gait, 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Steppage... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Axonal degeneration, Steppage gait OMIM:616155
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Perip... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Gait disturbance, Axonal degeneration, De... OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Decreased motor nerve ... OMIM:615490
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:610951
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait OMIM:618138
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Peripheral axonal degeneration, Truncal ataxia, Limb ataxia, Ataxia, Loss of ambulat... OMIM:208920
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action po... ORPHA:90103
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls OMIM:618811
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Peripheral hyp... OMIM:604168
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Gait disturbance, Neurodegeneration, Motor axonal neuropathy OMIM:615643
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Inability to walk, Axonal loss, Ataxia, Cerebral atrophy, Cerebellar a... OMIM:617672
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dysdiadochokinesis, Ataxia, Dysmetria, Difficulty walking, Cerebellar atrophy, Atr... OMIM:612319
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves, Gait d... ORPHA:88628
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... OMIM:604320
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Diffuse cerebellar atrophy, Optic neuropathy, Axonal degeneration, Neurodeg... ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Axonal degeneration OMIM:616811
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Peripheral axonal degen... OMIM:615157
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... OMIM:256600
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria OMIM:618090
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
De Sanctis-Cacchione Syndrome
Global brain atrophy, Optic atrophy, Choreoathetosis, Ataxia, Scissor gait, Cerebral atrophy, Axo... OMIM:278800
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy OMIM:106100
Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Neurodegeneration, ... OMIM:245200
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Ataxia, Dysmetria, Loss of ambulation, Cerebral atrophy, Cerebellar atrophy, Neuro... OMIM:615491
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy ORPHA:309246
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Adrenomyeloneuropathy
Spastic gait, Peripheral axonal degeneration, Atrophy of the spinal cord, Axonal degeneration, At... ORPHA:139399
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Akinesia, Neurodegeneration, Cerebral atrophy OMIM:300894
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Broad-based gait ORPHA:248111
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Choreoathetosis, Diffuse cerebral atrophy, Loss o... ORPHA:391428
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Neurodegeneration, Difficulty walking, Broad-based gait ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 4
Motor axonal neuropathy, Optic atrophy, Gait disturbance, Ataxia, Abnormal lower motor neuron mor... OMIM:614298
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia ORPHA:382
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Neurodegeneration, Cerebral atrophy OMIM:272750
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia OMIM:612716
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Cerebellar atrophy, Neurodegeneration, Diffuse cerebral atrophy OMIM:214150
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Optic atrophy, Dysdiadochokinesis, Dysmetria, Cerebral atrophy, Cerebellar atrophy, ... OMIM:610217
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Neurodegeneration, Ataxia OMIM:606159
Cerebrotendinous Xanthomatosis
Global brain atrophy, Optic atrophy, Gait disturbance, Ataxia, Decreased nerve conduction velocit... ORPHA:909
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Cerebellar atrophy, Neurodegeneration, Optic atrophy OMIM:616239
Adrenoleukodystrophy
Truncal ataxia, Limb ataxia, Neurodegeneration OMIM:300100
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Kanzaki Disease
Cerebral atrophy, Axonal degeneration, Peripheral axonal neuropathy OMIM:609242
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Optic disc pallor, Ne... ORPHA:447788
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Optic atrophy, Gait disturbance, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:616878
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration, Difficulty walking, Optic atrophy OMIM:618476
Trigeminal Neuralgia
Allodynia ORPHA:221091
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:618321
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Chediak-Higashi Syndrome
Gait disturbance, Decreased nerve conduction velocity, Neurodegeneration, Ataxia OMIM:214500
Histidinemia
Hyperactivity ORPHA:2157
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Optic atrophy, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Cerebra... OMIM:234200
Benign Schwannoma
Allodynia, Schwannoma, Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Vestibula... ORPHA:252164
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Ataxia OMIM:146500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Mucopolysaccharidosis, Type Ii
Papilledema, Neurodegeneration OMIM:309900
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Dysmetria, Cerebral atrophy, Gait ataxia ORPHA:320385
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gait ataxia, Dysmetria, Spastic gait, Cerebral atrophy OMIM:615031
Hurler Syndrome
Neurodegeneration OMIM:607014
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Dysphagia OMIM:603041
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Falls, Neurofibromas, Ataxia, Broad-based gait, Neurodegeneration, Peripheral demye... OMIM:619475
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Primrose Syndrome
Neurodegeneration, Ataxia 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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