Not currently registered for phenotyping at IMPC

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

Gene Summary

contactin associated protein-like 4
Caspr4,  E130114F09Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Neurodegeneration, Ataxia, Cerebellar atrophy, Progressive leukoencephalopathy, Periven... OMIM:615889
Neurodegeneration, Ataxia OMIM:222350
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Hypoplasia of the corpus callosum, Gait disturbance, Neurodegeneration, Toe walking, Br... OMIM:615643
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Chorea, Hypoplasia of the corpus callosum, Neurodegeneration, Cerebral atrophy, Ataxia,... OMIM:617672
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... OMIM:612319
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Cerebral atrophy, Neurodegeneration, Ataxia, Bradykinesia, Cerebell... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebral atrophy, Neurodegeneration, Bradykinesia, Cerebellar atrophy OMIM:300894
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Larynge... OMIM:606159
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Chorea, Abnormal cerebral white matter morphology, Cerebral atrophy, Neurodeg... OMIM:618321
Adult Krabbe Disease
Impaired tactile sensation, Abnormal midbrain morphology, Gait disturbance, Ataxia, Acroparesthes... ORPHA:206448
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Chorea, Cerebral atrophy, Neu... OMIM:610217
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Developmental And Epileptic Encephalopathy 8
Seizure, Exaggerated startle response OMIM:300607
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Abnormal corpus callosum morphology, Mo... OMIM:611560
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response ORPHA:163985
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Ataxia OMIM:617757
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Cerebral atrophy, Neurodegeneration ORPHA:309246
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level... OMIM:605373
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Difficulty walking, Gait distur... ORPHA:79244
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... ORPHA:356961
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Ataxia, Cerebellar atrophy, Unsteady gait, Microcephaly OMIM:615919
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Neurodegeneration, Abnormal lower motor neuron morphology, Ataxia, Le... OMIM:614298
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Exaggerated startle response, Myoclonus OMIM:618201
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Seizure, Exaggerated startle response OMIM:618367
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:610688
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Stiff Person Spectrum Disorder
Hypothyroidism, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dystonia, Akinesia, Global brain atrophy, Gait distu... OMIM:234200
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Myoclonic spasms, Diabetes mellitus OMIM:184850
Tay-Sachs Disease
Seizure, Exaggerated startle response OMIM:272800
Japanese Encephalitis
Abnormality of thalamus morphology, Dystonia, Focal T2 hyperintense thalamic lesion, Abnormality ... ORPHA:79139
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Lethargy, Abnormal hypothalamus morphology, Abnormal mid... ORPHA:68
Gm2-Gangliosidosis, Ab Variant
Seizure, Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Seizure, Exaggerated startle response OMIM:615574
Tay-Sachs Disease
Tremor, Seizure, Exaggerated startle response, Myoclonus, Focal impaired awareness seizure, Typic... ORPHA:845
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hair-pulling OMIM:613229
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:268800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Exaggerated startle response, Congenital hypothyroidism, Generalized-onset seizure OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Seizure, Exaggerated startle response ORPHA:438216
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response, Myoclonus OMIM:608643
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Abnormal midbrain morpholog... ORPHA:314621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response ORPHA:79255
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Per... ORPHA:444072
Plaa-Associated Neurodevelopmental Disorder
Seizure, Exaggerated startle response ORPHA:521426
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho... ORPHA:892
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Abnormality of the anterior pituitary, Hypothyroidism, Seizure, Exagge... ORPHA:438213
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimuation test, Adrenocortico... ORPHA:293987
Hair-pulling, Head titubation, Bilateral tonic-clonic seizure, Resting tremor, Seizure ORPHA:2388
Monosomy 22Q13.3
Seizure, Hair-pulling ORPHA:48652


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.

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MGI Allele Allele Type Produced
Cntnap4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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