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
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Dystonia ORPHA:178469

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Sotos Syndrome 3
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Panacinar emphysema OMIM:613490
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Emphysema, Acute infectious pneumonia, Hemoptysis, R... ORPHA:60033
Histidinemia
Hyperactivity ORPHA:2157
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Allergic Bronchopulmonary Aspergillosis
Emphysema, Hemoptysis, Bronchiectasis, Abnormal bronchus morphology ORPHA:1164
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Abnormal respiratory system morphology, Emphys... ORPHA:70589
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections OMIM:618042
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Gand Syndrome
Hyperactivity OMIM:615074
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity OMIM:300624
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Bronchiectasis, Recurrent pneumonia OMIM:242700
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Hypophosphatasia
Emphysema ORPHA:436
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Pulmonary art... OMIM:613177
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Hypocomplementemic Urticarial Vasculitis
Pleural effusion, Emphysema, Hemoptysis ORPHA:36412
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Common Variable Immunodeficiency
Recurrent bronchitis, Bronchiectasis, Emphysema, Posterior pharyngeal cleft, Pneumonia, Recurrent... ORPHA:1572
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Tracheobronchomalacia, Antevert... OMIM:616835
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections OMIM:219100
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Lymphangioleiomyomatosis
Emphysema, Atelectasis, Chylothorax, Hemoptysis, Pulmonary lymphangiomyomatosis, Pulmonary infilt... ORPHA:538
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on pulmonary HR... OMIM:130050
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:181000
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Keutel Syndrome
Recurrent bronchitis, Emphysema, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasi... OMIM:245150
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Nocardiosis
Abnormal sputum, Pleuritis, Pleural effusion, Emphysema, Pneumonia, Hemoptysis, Pneumothorax ORPHA:31204
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema OMIM:613658
Cutis Laxa, Autosomal Recessive, Type Ib
Bulbous nose, Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation, Depressed nasal ... OMIM:614437
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent pneumonia, Emphysema, Wide nasal bridge, Recurrent bronchopulmonary infections OMIM:219721
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Marfan Syndrome
Spontaneous pneumothorax, Emphysema, Pulmonary artery dilatation, Hemoptysis ORPHA:558
Neonatal Marfan Syndrome
Emphysema, Wide nasal bridge ORPHA:284979
Sarcoidosis
Abnormal lung morphology, Bronchiectasis, Pulmonary fibrosis, Abnormal pleura morphology, Emphyse... ORPHA:797
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax OMIM:154700
Fabry Disease
Emphysema ORPHA:324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Short nose, Emphysema, Wide nasal bridge, Depressed nasal bridge ORPHA:500150
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Dystonia ORPHA:178469

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 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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
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
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) Targeting vectors, ES Cells

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