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Gene: Cntn2 MGI:104518

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
contactin 2
Synonyms:
axonin,  TAG-1,  Tax,  TAG1,  D130012K04Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cntn2 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 Cntn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure ORPHA:86814
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400

The table below shows human diseases predicted to be associated to Cntn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Kifafa Seizure Disorder
Seizure OMIM:245180
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure ORPHA:86814
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310

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 Cntn2

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 Cntn2.

No publications found that use IMPC mice or data for Cntn2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cntn2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cntn2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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