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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
increased thermal nociceptive threshold Tecpr2em1(IMPC)J HOM   Early adult 6.19×10-05 *
hypoalgesia Tecpr2em1(IMPC)J HOM   Early adult 0.000284 *
hyperactivity Tecpr2em1(IMPC)J HOM   Early adult 2.40×10-14
hyperactivity Tecpr2em1(IMPC)J HOM   Late adult 5.32×10-05
abnormal vocalization Tecpr2em1(IMPC)J HOM Late adult 6.10×10-05
increased vertical activity Tecpr2em1(IMPC)J HOM Early adult 2.95×10-07
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.
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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 Lateral Orientation

4 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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PDF thumbnail PDF
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
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Gait ataxia ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Cerebral atrophy, Spastic gait, Dysmetria, Gait ataxia 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
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Axonal degeneration, Peripheral axonal degeneration, Axonal degenera... OMIM:614436
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Hypertrophic nerve changes, Axonal degeneration, Basa... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration OMIM:616155
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Axonal degeneration, Atrophy of the spinal cord, Diffuse axonal swelling, Deg... OMIM:602433
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:610951
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Gait... OMIM:604484
Charcot-Marie-Tooth Disease Type 2B1
Steppage gait, Inability to walk, Axonal degeneration, Sensory axonal neuropathy, Decreased numbe... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Difficulty walking, Axonal degeneration, Cerebellar atrophy, Gait disturbance, Decr... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Charcot-Marie-Tooth Disease, Type 4C
Difficulty walking, Axonal degeneration, Abnormal cranial nerve morphology, Facial palsy, Basal l... OMIM:601596
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Axonal degeneration, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Ataxia, Loss o... OMIM:208920
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mitochondrial Dna Depletion Syndrome 18
Falls, Axonal degeneration OMIM:618811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Ataxia, Peripheral axonal dege... OMIM:604168
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Neuro... OMIM:617672
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Motor axonal neuropathy, Neurodegeneration, Gait disturbance OMIM:615643
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokines... OMIM:612319
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Gait disturbance, G... ORPHA:88628
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Optic neuropathy, Diffuse cerebellar atrophy, Neurodeg... ORPHA:478029
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy OMIM:616811
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Axonal degeneration OMIM:604320
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior OMIM:619470
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Limb ataxia, Dysdiadochokinesis, Cerebellar atrophy, Gait apraxia, Gait ataxia,... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Ata... OMIM:256600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Optic atrophy, Global brain atrophy, Scissor gait, Axonal degeneration, Ataxia,... OMIM:278800
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Akinesia, Neurodegeneration, Cerebellar atrophy OMIM:300894
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Exaggerated startle response ORPHA:309246
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Loss of ambulation, Neurodegeneratio... OMIM:615491
Adrenomyeloneuropathy
Spastic gait, Axonal degeneration, Atrophy of the spinal cord, Atrophy/Degeneration involving the... ORPHA:139399
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Loss ... ORPHA:391428
Pyruvate Dehydrogenase E2 Deficiency
Difficulty walking, Neurodegeneration, Gait disturbance, Broad-based gait ORPHA:79244
Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Neurodegeneration, Peripheral demyelination OMIM:245200
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Cerebellar atrophy, Gait disturbance, Ataxia, Loss of ambulation, Motor axonal neu... OMIM:614298
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Aggres... ORPHA:3077
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Allodynia ORPHA:51890
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Exaggerated startle response OMIM:272750
Ataxia-Telangiectasia-Like Disorder 2
Unsteady gait, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Diffuse cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:214150
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Neurodegeneration, Ataxia OMIM:606159
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy, G... ORPHA:909
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Optic atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Neurodegene... OMIM:610217
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Neurodegeneration OMIM:300100
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebellar atrophy OMIM:616239
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Increased cup-to-disc... ORPHA:447788
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Trigeminal Neuralgia
Allodynia ORPHA:221091
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Optic atrophy, Gait disturbance, Gait ataxia, Ataxia, Neurodegeneration OMIM:616878
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Pudendal Neuralgia
Allodynia ORPHA:60039
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Neurodegeneration, Ataxia OMIM:618476
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Neurodegeneration, Ataxia, Gait ataxia OMIM:618321
Histidinemia
Hyperactivity ORPHA:2157
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Global brain atrophy, Akinesia, Gait disturbance, Cerebral degeneration, Ataxia, C... OMIM:234200
Spinal Cord Injury
Allodynia ORPHA:90058
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Ataxia OMIM:146500
Chediak-Higashi Syndrome
Neurodegeneration, Ataxia, Gait disturbance OMIM:214500
Mucopolysaccharidosis, Type Ii
Papilledema, Neurodegeneration OMIM:309900
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Gait ataxia ORPHA:320385
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Cerebral atrophy, Spastic gait, Dysmetria, Gait ataxia OMIM:615031
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Dysphagia OMIM:603041
Hurler Syndrome
Neurodegeneration OMIM:607014
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Broad-based gait, Falls, Ataxia, Neurofibroma, Neurodegeneration, Peripheral demyel... OMIM:619475
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia, Neurodegeneration OMIM:620455
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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