Gene Summary

Name:
INO80 complex subunit C
Synonyms:
D030070L09Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Ino80cem1(IMPC)J HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Ino80cem1(IMPC)J HOM   E15.5 0.00
preweaning lethality, complete penetrance Ino80cem1(IMPC)J HOM   Early adult 0.00
abnormal heart morphology Ino80cem1(IMPC)J HOM E9.5 0.00
abnormal tail morphology Ino80cem1(IMPC)J HOM E12.5 0.00
eye hemorrhage Ino80cem1(IMPC)J HET Early adult 8.21×10-05
abnormal embryo size Ino80cem1(IMPC)J HOM E12.5 0.00
anophthalmia Ino80cem1(IMPC)J HOM E12.5 0.00
increased vertical activity Ino80cem1(IMPC)J HET Early adult 4.55×10-05
abnormal hindbrain morphology Ino80cem1(IMPC)J HOM E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Ino80c 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 Ino80c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Anophthalmia, Neonatal death, Ventricular septal defect, Microphthalmia OMIM:615524
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion OMIM:613885
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Trisomy 13
Chiari malformation, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmi... ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia ORPHA:411986
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Choroid hemorrhage ORPHA:88619
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Microphthalmia, Syndromic 9
Severe short stature, Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Int... OMIM:601186
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Anorexia, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch blo... ORPHA:99827
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Ventricular septal defect, Microphthalmia ORPHA:77298
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Lujo Hemorrhagic Fever
Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Dysphagia, Bradycardia, ... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Agitation, Ec... ORPHA:340
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Subconjunctival hemorrhage, Ep... ORPHA:464329
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Anophthalmia, Microphthalmia ORPHA:139471
Hydrolethalus
Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Walker-Warburg Syndrome
Anophthalmia, Cerebellar hypoplasia, Microphthalmia, Abnormal cerebellar vermis morphology, Dandy... ORPHA:899
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Trisomy 1Q
Cerebellar hypoplasia, Anophthalmia, Ventricular septal defect ORPHA:261344
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... ORPHA:40923
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Anore... ORPHA:99826
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis ORPHA:88
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Anorexia, Ret... ORPHA:509
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Anophthalmia, Ventricul... ORPHA:2162
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Ventricular septal defect, Micro... OMIM:206900
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Anophthalmia, Microphthalmia ORPHA:3412
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Encephalocele, Anophthalmia, Dandy-Wa... OMIM:605627
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Atelis Syndrome 2
Dysmetria, Vitreous hemorrhage, Attention deficit hyperactivity disorder, Supravalvar pulmonary s... OMIM:620185
Fibular Hemimelia
Abnormal heart morphology, Spina bifida, Anophthalmia ORPHA:93323
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Charge Syndrome
Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:138
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalm... ORPHA:564
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Anophthalmia, Mitral valve prolapse, Ventricular septal ... OMIM:300166
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... OMIM:192315
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Truncus arteriosus, Atrial septal defect, Microphthalmia, Growth delay ORPHA:2538
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anophthalmia, Mitral v... ORPHA:2556
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Inability to walk, Vitreous hemorrhage, Cerebral hemorrhage, Retinal hem... OMIM:620371
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ataxia, Congestive heart f... ORPHA:33226
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage OMIM:177850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
14Q22Q23 Microdeletion Syndrome
Short stature, Anophthalmia, Optic nerve aplasia ORPHA:264200
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris... ORPHA:758
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Ataxia, Retinal hemorrhage, Athetosis, Dysphagia ORPHA:25
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae ORPHA:294
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Abnormal heart morphology, Encephalocele, Anophthalmia OMIM:219000
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardatio... OMIM:214800
Focal Dermal Hypoplasia
Chiari malformation, Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, ... OMIM:305600
Holoprosencephaly 9
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Ventricular septal defect, Anophthalmia, Microphthalmia ORPHA:141099
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Anorexia, Hematemesis, Melena, Retinal hemorrhage ORPHA:319251
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Familial Drusen
Macular hemorrhage ORPHA:75376
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Attention deficit hyperactivity disorder, Telangiect... ORPHA:464
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M... OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Broad-based gait, Hyphema, Inability to walk, Bruxism, Dysphagia, Motor st... ORPHA:261552
Fraser Syndrome
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia ORPHA:2052
Microphthalmia With Limb Anomalies
Short stature, True anophthalmia, Microphthalmia ORPHA:1106
Microphthalmia, Syndromic 6
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Anophthalmia, Microphthalmia OMIM:607932
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Craniofacial Microsomia 1
Chiari malformation, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Anophthalmi... OMIM:164210
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Difficulty walking, Retinal hemorrhage, Unsteady gait, Incre... ORPHA:90324
Trichinellosis
Retinal hemorrhage, Dysphagia ORPHA:863
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Anorexia ORPHA:91500
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Cockayne Syndrome
Difficulty walking, Inability to walk, Progressive gait ataxia, Gait disturbance, Ataxia, Retinal... ORPHA:191
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Growth delay, Anophthalmia, Microphthalmia OMIM:309800
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage OMIM:175780
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pulmonary arterial ... ORPHA:51608

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 Ino80c

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 Ino80c.

No publications found that use IMPC mice or data for Ino80c.

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MGI Allele Allele Type Produced
Ino80ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ino80cem1(IMPC)J Exon Deletion Mice

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