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Gene: Cplx2 MGI:104726

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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:
complexin 2
Synonyms:
Gm34843,  921-L

Order Alleles

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 Cplx2 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 Cplx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia, Depression OMIM:619565
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Memory impairment, Depress... OMIM:605361
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Memory impairment, Depression, Chorea, Gait disturbance, Gait a... ORPHA:157941
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Emotional lab... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chore... ORPHA:248111
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Gait disturbance, Cognitive impairment, Dysp... ORPHA:216866
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration OMIM:615924
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Emotional lability, Episodic ataxia OMIM:234500
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Bradykinesia, Chorea, Titubation, Short attention span, Gait disturbance, Gai... ORPHA:225147
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog... ORPHA:309246
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Agenesis of corpus callosum, Lethargy, Ag... OMIM:605899
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia, Mental deterioration OMIM:304700
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R... ORPHA:100924
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Dysphagia, Inability to walk, Depression OMIM:128100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Memory impairment, Hyperactivity, Attention de... OMIM:619827
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Chorea, Mental deterioration, Dysdiadochokinesis, Emotional lability... OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive 30
Compulsive behaviors, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Choreoacanthocytosis
Hair-pulling, Socially inappropriate behavior, Hyperactivity, Chorea, Head-banging, Head titubati... ORPHA:2388
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Chorea, Short attention span, Exaggerated startle response OMIM:617864
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Athetosis, Titubation, Cognitive impairment, Dystonic gait, Ataxia ORPHA:280219
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Leukodystrophy, Hypomyelinating, 13
Irritability, Ataxia, Exaggerated startle response OMIM:616881
Tay-Sachs Disease
Inability to walk, Memory impairment, Depression, Tremor, Short attention span, Exaggerated start... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response, Dementia OMIM:272750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Difficulty walking, Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Lethargy OMIM:614857
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Bradykinesia, Akinesia, Hyperactivity, Depression, Tremor, Blepharosp... OMIM:234200
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, P... OMIM:620330
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startl... OMIM:268800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, Leth... OMIM:620423
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Depression, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressi... OMIM:612716
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hyperactivity, Exaggerated startle response OMIM:617281
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response, Cognitive impairment OMIM:617527
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Vici Syndrome
Abnormal posturing, Dysphagia OMIM:242840
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia, Lateral ventricle dilatation OMIM:618367
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Monosomy 22Q13.3
Impaired pain sensation, Hyperactivity, Bruxism, Hair-pulling ORPHA:48652
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response OMIM:615574
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Agenesis of corpus callosum OMIM:253800
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522

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 Cplx2

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 Cplx2.

No publications found that use IMPC mice or data for Cplx2.

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MGI Allele Allele Type Produced
Cplx2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cplx2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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