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

IMPC Data Collections

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

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.

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
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Kifafa Seizure Disorder
Seizure OMIM:245180
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ... OMIM:602433
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 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder OMIM:263570
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:205100
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Abnormal upper motor neuron morphology, Atrophy of the spinal cord ORPHA:35689
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... 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.

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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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