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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
hyperactivity Tecpr2em1(IMPC)J HOM   Early adult 2.35×10-14
increased vertical activity Tecpr2em1(IMPC)J HOM Early adult 2.93×10-07
hypoalgesia Tecpr2em1(IMPC)J HOM   Early adult 0.000284 *
increased thermal nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 6.19×10-05 *
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.
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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
Gait ataxia, Cerebellar atrophy, Cerebral atrophy, Dysmetria ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Gait ataxia, Cerebral atrophy, 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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Perip... OMIM:606482
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Steppage gait, Tip-toe gait, Peripheral axonal degeneration, Axonal degeneration, Axonal degenera... OMIM:614436
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Inability to walk by childhood/adolescence, Hypertrophic nerve... OMIM:214400
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal lower motor neu... OMIM:602433
Diaminopentanuria
Ataxia, Neurodegeneration OMIM:222350
Charcot-Marie-Tooth Disease Type 2B1
Motor axonal neuropathy, Inability to walk, Sensory axonal neuropathy, Clusters of axonal regener... ORPHA:98856
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of p... OMIM:604484
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Ataxia, Neurodegeneration, Optic atrophy, Cerebellar atrophy OMIM:610951
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Gait disturbance, Difficulty walking, Tip-toe gait, Decreased number of peripheral myelinated ner... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Difficulty walking, Segment... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve ... OMIM:615490
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fi... OMIM:208920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Falls OMIM:618811
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Ataxia, Peripheral demyelination, Peripheral axonal degeneration, Peripheral hy... OMIM:604168
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Axonal degeneration ORPHA:90103
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Inability to walk, Cerebral atrophy, Ataxia, Peripheral demyelination, Axonal loss, Neurodegenera... OMIM:617672
Neurodegeneration With Brain Iron Accumulation 6
Motor axonal neuropathy, Tip-toe gait, Gait disturbance, Neurodegeneration OMIM:615643
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokinesis, Neu... OMIM:612319
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Peripheral axonal neuropathy OMIM:620011
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait disturbance, Ataxia, Abnormal peripheral nerve morphology by anatomical site, Gait ataxia, A... ORPHA:88628
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebella... ORPHA:478029
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:615889
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy OMIM:616811
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration OMIM:604320
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Cerebral atrophy, Ataxia, Dysdiadochokinesis, Cerebellar atrophy, Gait apraxia, Peri... OMIM:615157
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria OMIM:618090
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Ataxia, Unsteady gait, Neurodegeneration, Neuronal loss in central nervous syst... OMIM:256600
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
De Sanctis-Cacchione Syndrome
Global brain atrophy, Ataxia, Cerebral atrophy, Scissor gait, Axonal degeneration, Optic atrophy,... OMIM:278800
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy OMIM:106100
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:300894
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Neurodegeneration ORPHA:309246
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Ataxia, Loss of ambulation, Neurodegeneration, Optic atrophy, Cerebellar atroph... OMIM:615491
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Krabbe Disease
Peripheral demyelination, Optic atrophy, Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Adrenomyeloneuropathy
Atrophy of the spinal cord, Peripheral axonal degeneration, Atrophy/Degeneration involving the co... ORPHA:139399
Hsd10 Disease, Infantile Type
Cerebral atrophy, Diffuse cerebral atrophy, Loss of ambulation, Neurodegeneration, Optic atrophy,... ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Neurodegeneration With Brain Iron Accumulation 4
Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss o... OMIM:614298
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Gait ataxia, Broad-based gait ORPHA:248111
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Gait disturbance, Broad-based gait, Neurodegeneration ORPHA:79244
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis ORPHA:382
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Neurodegeneration OMIM:272750
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia OMIM:612716
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Dysdiadochokinesis, Gait ataxia, Neurodegeneration, Optic atrophy, Cerebellar a... OMIM:610217
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Diffuse cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:214150
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Ataxia, Neurodegeneration OMIM:606159
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Optic atrophy, Cerebellar atrophy, Neurodegeneration OMIM:616239
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Neurodegeneration OMIM:300100
Kanzaki Disease
Axonal degeneration, Peripheral axonal neuropathy, Cerebral atrophy OMIM:609242
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cerebrotendinous Xanthomatosis
Gait disturbance, Global brain atrophy, Ataxia, Optic neuropathy, Optic disc pallor, Axonal degen... ORPHA:909
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Central nervous system degeneration, Increased cup-to-... ORPHA:447788
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait disturbance, Cerebral atrophy, Ataxia, Gait ataxia, Neurodegeneration, Optic atrophy OMIM:616878
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Ataxia, Neurodegeneration OMIM:618476
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:618321
Trigeminal Neuralgia
Allodynia ORPHA:221091
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Histidinemia
Hyperactivity ORPHA:2157
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Global brain atrophy, Ataxia, Neurodegeneration, Akinesia, Optic atrophy, Cereb... OMIM:234200
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Abnormal cranial nerve morphology, Vestibular schwannom... ORPHA:252164
Chediak-Higashi Syndrome
Gait disturbance, Ataxia, Neurodegeneration OMIM:214500
Multiple System Atrophy 1, Susceptibility To
Ataxia, Neurodegeneration 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
Gait ataxia, Cerebellar atrophy, Cerebral atrophy, Dysmetria ORPHA:320385
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Gait ataxia, Cerebral atrophy, Dysmetria OMIM:615031
Hurler Syndrome
Neurodegeneration OMIM:607014
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Dysphagia, Allodynia OMIM:603041
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Falls, Ataxia, Tip-toe gait, Peripheral demyelination, Neurodegeneration, Neurofibroma, Broad-bas... OMIM:619475
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Primrose Syndrome
Ataxia, 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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