Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
capicua transcriptional repressor
Synonyms:
1200010B10Rik

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 Cic 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 Cic by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... ORPHA:79126
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Histidinemia
Hyperactivity ORPHA:2157
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis ORPHA:2902
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis OMIM:300219
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Recurrent sinopulmonary infec... ORPHA:244
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections OMIM:242700
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Hypophosphatasia
Emphysema ORPHA:436
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Emphysema ORPHA:60
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Hypocomplementemic Urticarial Vasculitis
Pleural effusion, Emphysema ORPHA:36412
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly... ORPHA:538
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections ORPHA:333
Common Variable Immunodeficiency
Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections ORPHA:1572
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st... OMIM:613177
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Neonatal death, Atelectasis OMIM:269860
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema OMIM:219100
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Repeated pneumothoraces ORPHA:536467
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia OMIM:620371
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Granulomatous Disease, Chronic, X-Linked
Pleural effusion, Recurrent pneumonia, Atelectasis OMIM:306400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis OMIM:618278
Zygomycosis
Acute infectious pneumonia, Pleural effusion, Atelectasis, Pneumothorax ORPHA:73263
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar... OMIM:181000
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu... OMIM:130050
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema ORPHA:90349
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema OMIM:616835
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pneumonia ORPHA:31204
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis ORPHA:534
Chand Syndrome
Atelectasis ORPHA:1401
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Atelectasis ORPHA:567
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Neonatal death, Emphysema, Pulmonary artery dilatation OMIM:614437
Sarcoidosis
Pneumothorax, Emphysema, Chylothorax, Pleural effusion, Abnormal lung morphology, Abnormal pleura... ORPHA:797
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Marfan Syndrome
Pneumothorax, Pulmonary artery dilatation, Emphysema OMIM:154700
Relapsing Polychondritis
Atelectasis ORPHA:728
Autosomal Dominant Cutis Laxa
Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis ORPHA:90348
Keutel Syndrome
Recurrent bronchitis, Peripheral pulmonary artery stenosis, Emphysema, Pulmonary artery hypoplasia OMIM:245150
Fabry Disease
Emphysema ORPHA:324
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis ORPHA:500150
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema OMIM:619472
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Pulmonary bulla, Neoplasm of the lung, Pulmonary cyst ORPHA:744
Sotos Syndrome
Small cell lung carcinoma, Pulmonary bleb ORPHA:821

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 Cic

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 Cic.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Postnatal regulation of B-1a cell development and survival by the CIC-PER2-BHLHE41 axis. Cell reports (February 2022) Cictm1c(KOMP)Wtsi 35172136
Capicua regulates the development of adult-born neurons in the hippocampus. Scientific reports (June 2021) Cictm1c(KOMP)Wtsi PMC8175746
Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis. Proceedings of the National Academy of Sciences of the United States of America (September 2020) Cictm1c(KOMP)Wtsi PMC7519225
The Capicua/ETS Translocation Variant 5 Axis Regulates Liver-Resident Memory CD8+ T-Cell Development and the Pathogenesis of Liver Injury. Hepatology (Baltimore, Md.) (April 2019) Cictm1c(KOMP)Wtsi 30810242
CIC protein instability contributes to tumorigenesis in glioblastoma. Nature communications (February 2019) Cictm1a(KOMP)Wtsi PMC6368580
ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron (March 2018) Cictm1c(KOMP)Wtsi 29526553
Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proceedings of the National Academy of Sciences of the United States of America (January 2018) Cictm1c(KOMP)Wtsi PMC5816173
Cic Loss Promotes Gliomagenesis via Aberrant Neural Stem Cell Proliferation and Differentiation. Cancer research (September 2017) Cictm2a(KOMP)Wtsi PMC5690824
Capicua deficiency induces autoimmunity and promotes follicular helper T cell differentiation via derepression of ETV5. Nature communications (July 2017) Cictm1c(KOMP)Wtsi Cictm1a(KOMP)Wtsi PMC5510180
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature genetics (March 2017) Cictm1c(KOMP)Wtsi Cictm1a(KOMP)Wtsi Cictm1b(KOMP)Wtsi PMC5374026

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MGI Allele Allele Type Produced
Cictm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cictm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cictm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cictm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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