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Gene: Cntnap4 MGI:2183572

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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 associated protein-like 4
Synonyms:
E130114F09Rik,  Caspr4

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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 Cntnap4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cntnap4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:610951
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Bradykinesia, Fa... ORPHA:412066
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... OMIM:609583
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Abn... ORPHA:206448
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus OMIM:618201
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Joubert Syndrome 6
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... OMIM:610688
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Gm2 Gangliosidosis, Ab Variant
Seizure, Exaggerated startle response, Dystonia ORPHA:309246
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Myoclonic spasms, Opisthotonus OMIM:184850
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Seizure, Focal impaired awareness seizure OMIM:618056
Gm2-Gangliosidosis, Ab Variant
Seizure, Exaggerated startle response, Dystonia, Myoclonic seizure OMIM:272750
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... OMIM:617281
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Seizure, Exaggerated startle response OMIM:620114
Trichotillomania
Hair-pulling OMIM:613229
Tay-Sachs Disease
Seizure, Exaggerated startle response OMIM:272800
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Inability to walk, Cerebral atrophy, Atrophy/De... ORPHA:356961
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Seizure, Exaggerated startle response, Status epilepticus OMIM:617864
Tay-Sachs Disease
Exaggerated startle response, Precocious puberty, Tremor, Typical absence seizure, Seizure, Focal... ORPHA:845
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Myoclonic seizure OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Seizure, Exaggerated startle response, Dystonia ORPHA:438216
Sandhoff Disease
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Exaggerated startle response, Generalized-onset seizure, Congenital hypothyroidism OMIM:617527
Asparagine Synthetase Deficiency
Tremor, Clonic seizure, Exaggerated startle response, Seizure OMIM:615574
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Seizure, Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tonic seizure, Seizure, Atonic seizure, Focal emotional seizure wit... OMIM:618367
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, Generalized tonic seizure OMIM:616393
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of anterior horn moto... ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Exaggerated startle response OMIM:253800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... ORPHA:68
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Choreoacanthocytosis
Resting tremor, Bilateral tonic-clonic seizure, Head titubation, Hair-pulling, Blepharospasm, Sei... ORPHA:2388
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Hair-pulling, Generalized non-motor (absence) seizure, Myoclonic ... OMIM:620330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Abnormality of the endocrine system, Precocious pu... ORPHA:438213
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Monosomy 22Q13.3
Hair-pulling, Seizure ORPHA:48652
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Exaggerated startle response OMIM:619522
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Impaired pain sensation ORPHA:293987

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 Cntnap4

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 Cntnap4.

No publications found that use IMPC mice or data for Cntnap4.

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
Cntnap4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cntnap4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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