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Gene: Ovol2 MGI:1338039

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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:
ovo like zinc finger 2
Synonyms:
Zfp339,  M-OVO,  M-OVO-A,  1810007D21Rik,  movo2,  Ovol2,  M-OVO-B

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 Ovol2 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 Ovol2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 1
OMIM:122000
Posterior Polymorphous Corneal Dystrophy
ORPHA:98973

The table below shows human diseases predicted to be associated to Ovol2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypoplastic left heart, Cleft... ORPHA:2476
Isolated Klippel-Feil Syndrome
Webbed neck, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Short neck, Low... ORPHA:2345
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acalvaria
Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus ORPHA:945
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Duodenal atresia, Right atrial isomer... OMIM:306955
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Meckel Syndrome 14
Holoprosencephaly, Short neck, Single ventricle, Occipital encephalocele, Increased nuchal transl... OMIM:619879
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... ORPHA:1120
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hypoplastic helices, Spina bifida, Prominent antitragus, Hydroceph... ORPHA:2437
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Spina bifida, Iris coloboma, Low-set, posteriorly rotated ear... ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele, Intestinal duplication ORPHA:1756
Diabetic Embryopathy
Abnormality of the neck, Spinal dysraphism, Ventricular septal defect, Microtia, Hydrocephalus, L... ORPHA:1926
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, High palate, Branchial anomaly, Abnormal mitral valve morphology, ... ORPHA:1131
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Microtia, Spina bifida, Abnormality of dental eruption, Attached earlobe, Low-set, p... ORPHA:1327
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Acropectorovertebral Dysplasia
Spina bifida, Cleft palate, High, narrow palate ORPHA:957
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... OMIM:613854
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy OMIM:207950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,... OMIM:617660
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Cerebrocostomandibular Syndrome
Meningocele, Conductive hearing impairment, Myelomeningocele, Ventricular septal defect, Webbed n... ORPHA:1393
Mosaic Trisomy 9
Patent ductus arteriosus, High palate, Ventricular septal defect, Low-set ears, Webbed neck, Spin... ORPHA:99776
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Low-set ears, Hypoplasti... OMIM:601186
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... OMIM:252011
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Stillbirth, Single ventricle, Hearing impairment, Umbilical h... OMIM:308050
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... OMIM:609166
Pelvis-Shoulder Dysplasia
Microtia, Spina bifida, Hydrocephalus, Hydranencephaly, Iris coloboma, Microglossia, Abnormal pin... ORPHA:2839
Scimitar Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Truncus arteriosus, Vent... ORPHA:185
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon, Congenital sensorineural hearing impairment, Cl... ORPHA:894
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, High palate, Branchial anomaly, Ventricular septal defect, Colobom... ORPHA:453499
Trisomy 18
Pointed helix, Narrow palate, Ventricular septal defect, Webbed neck, Esophageal atresia, Spina b... ORPHA:3380
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia, Duodenal stenosis, Intestinal malrotation, Dextrocardia, Abnormal ... ORPHA:1759
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Congenital Tracheomalacia
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Single ventricle, Atrial... ORPHA:95430
Sirenomelia
Spina bifida, Sirenomelia, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Fountain Syndrome
Spina bifida occulta, Sensorineural hearing impairment, Spina bifida ORPHA:3219
Holoprosencephaly 2
Bifid uvula, Semilobar holoprosencephaly, Submucous cleft hard palate, Alobar holoprosencephaly, ... OMIM:157170
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifida ORPHA:63260
Holoprosencephaly
Abnormal antihelix morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular s... ORPHA:2162
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Ana... ORPHA:63259
Congenitally Corrected Transposition Of The Great Arteries
Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connection, Double... ORPHA:216694
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... OMIM:270100
Focal Dermal Hypoplasia
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... ORPHA:2092
Amish Lethal Microcephaly
Spina bifida, Cleft soft palate ORPHA:99742
Branchiootorenal Syndrome 1
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Incomplete partitio... OMIM:113650
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Neu-Laxova Syndrome 2
High palate, Spina bifida, Short neck, Cleft palate, Low-set ears OMIM:616038
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Congenitally corre... OMIM:619702
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Aortopulmonary win... ORPHA:2299
Trisomy 20P
Abnormal antihelix morphology, Macrotia, Ectopic anus, Spina bifida, Short neck, Low posterior ha... ORPHA:261318
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex... ORPHA:107
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:52429
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect, Coloboma, Holoprosencephaly, Bilateral cleft p... OMIM:601357
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear ORPHA:435938
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ... OMIM:109400
Jacobsen Syndrome
Webbed neck, Abnormality of the anus, Ectopic anus, Ventricular septal defect, Spina bifida, Apla... ORPHA:2308
Vacterl With Hydrocephalus
Aqueductal stenosis, Microtia, third degree, Esophageal atresia, Spina bifida, Anotia, Arrhinence... ORPHA:3412
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Abnormal antihelix morphology, High palate, Ventricular septal defect, ... ORPHA:261337
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Torticollis, Bifid uvula, ... OMIM:619480
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Bifid tongue, Branchial anomaly, Ventricular septal defect, Exagge... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Bifid tongue, Branchial anomaly, Ventricular septal defect, Exagge... ORPHA:352665
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Dextrotransposition of the great arteries, Left ventricular outflow tra... ORPHA:860
Phakomatosis Pigmentokeratotica
Spina bifida, Coloboma ORPHA:2874
Holoprosencephaly 1
Alobar holoprosencephaly, Median cleft lip and palate, Cyclopia, Single ventricle, Ethmocephaly OMIM:236100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Triploidy
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Macroglossia, Intestinal malrotat... ORPHA:3376
Hallermann-Streiff Syndrome
High palate, Narrow palate, Natal tooth, Spina bifida, Iris coloboma, Chorioretinal coloboma, Low... OMIM:234100
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Short stature, Atrial sep... ORPHA:261330
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment ORPHA:2260
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inversus totalis ORPHA:991
22Q11.2 Deletion Syndrome
Meningocele, Conductive hearing impairment, Truncus arteriosus, Short neck, Cleft palate, Hearing... ORPHA:567
Lumbar Syndrome
Spina bifida, Myelomeningocele, Anal atresia, Ectopic anus ORPHA:83628
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Macrotia, Ventricular septal defect, Broad neck, ... OMIM:256520
Fanconi Anemia
Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Spina bifida, Aganglio... ORPHA:84
Nail-Patella Syndrome
Spina bifida, Cleft palate, Sensorineural hearing impairment OMIM:161200
Neu-Laxova Syndrome
Macrotia, Spina bifida, Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2671
Cloacal Exstrophy
Myelomeningocele, Spina bifida, Anal atresia, Intestinal malrotation, Intestinal duplication ORPHA:93929
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Spina bifida,... OMIM:274000
Treacher-Collins Syndrome
Patent ductus arteriosus, Conductive hearing impairment, Encephalocele, High palate, Narrow inter... ORPHA:861
Wildervanck Syndrome
Meningocele, Webbed neck, Short neck, Low posterior hairline, Facial palsy ORPHA:3456
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Facial telangiectasia, Short stature, Contracture of the proximal interphalange... OMIM:620141
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Spina bifida, Patent ura... OMIM:192350
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Hypertension, Intracranial ... OMIM:614424
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, High palate, Narrow palate, Ventricular septal de... OMIM:180849
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short stature, Spina bifida occulta, Congenital diaphragmat... ORPHA:2311
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Spinal dysraphism, Tethered cord OMIM:612918
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Congenital sensorineural hearing impairment OMIM:193500
Koolen-De Vries Syndrome Due To A Point Mutation
Macrotia, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial s... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Macrotia, Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial s... ORPHA:363958
Campomelic Dysplasia
Spinal dysraphism, High palate, Conductive hearing impairment, Low-set ears, Spina bifida, Hydroc... OMIM:114290
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect ORPHA:79321
Cartilage-Hair Hypoplasia
Spinal dysraphism, Macrotia, Abnormal cardiac septum morphology, Malabsorption, Aganglionic megac... ORPHA:175
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect, Short st... OMIM:130720
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Rectal abscess, Tethered cord, Myelosc... OMIM:600145
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Aicardi Syndrome
Spina bifida, Cleft palate, Optic disc coloboma, Hiatus hernia OMIM:304050
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Myopathy, Hydrocephalus ORPHA:588
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hearing impairment, Posteriorly rotated ears, Branchial anomaly, Prominent antihelix ORPHA:466950
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Anal atresia, Abnormal heart morphology, Anal stenosis ORPHA:322
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Spina bifida, Hydrocephalus, Atrial septal defect, Posteriorly rot... OMIM:304120
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma OMIM:603194
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Infancy onset short-trunk short stature,... ORPHA:508488
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... OMIM:212093
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Left ventricular nonco... OMIM:300967
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Short neck, Low posterior hairline, Umbilical hernia ORPHA:2789
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Broad neck, Short stature, Hydrocephalus, Spina bifida occulta, Situs inversus ... OMIM:613686
Split Cord Malformation
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Spinal cord tumor, Syringomyelia, Teth... ORPHA:573278
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Humero-Radial Synostosis
Meningocele ORPHA:3265
Craniofacial Microsomia
Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Branch... OMIM:164210
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Branchiooculofacial Syndrome
Hypoplastic superior helix, Fusion of middle ear ossicles, Conductive hearing impairment, Sensori... OMIM:113620
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Tethered cord... ORPHA:268810
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Ventricular septal defect, Microtia, Macroglossia, Atrial septal defect, Redun... ORPHA:96334
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, High palate, Atrial septal defect, Double inlet left ventricle, Tetralo... OMIM:619869
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus, Upper lim... ORPHA:1136
Witteveen-Kolk Syndrome
Macrotia, High palate, Sensorineural hearing impairment, Thickened helices, High, narrow palate, ... OMIM:613406
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Arrhinencephaly, Occipital meningocele, Short stature OMIM:277170
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Redundant neck ... ORPHA:397715
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Marfan Syndrome
Meningocele, Mitral valve prolapse, Congestive heart failure, Skeletal muscle atrophy, Mitral val... ORPHA:558
Phocomelia, Schinzel Type
Meningocele, Disproportionate short stature, Short neck, Intrauterine growth retardation ORPHA:2879
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus OMIM:267750
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Arima Syndrome
Growth delay, Occipital meningocele, Hypertension OMIM:243910
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger ORPHA:1010
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:610828
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Elbow flexion contracture, Disproportionate short stature, Short neck, Occipital meni... OMIM:276820
Posterior Polymorphous Corneal Dystrophy
ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 1
OMIM:122000

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 Ovol2

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 Ovol2.

No publications found that use IMPC mice or data for Ovol2.

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MGI Allele Allele Type Produced
Ovol2tm33715(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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