Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 1
Posterior Polymorphous Corneal Dystrophy

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

Disease Similarity of
Matching phenotypes Source
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Ventricular septal defect, Hypoplastic lef... ORPHA:2476
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Ectopic anus, Low posterior hairline, Spina bifida,... ORPHA:2345
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Hydrocephalus, Cleft palate, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomeris... OMIM:306955
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Meckel Syndrome 14
Occipital encephalocele, Low-set ears, Increased nuchal translucency, Holoprosencephaly, Short ne... OMIM:619879
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Czeizel-Losonci Syndrome
Hypoplastic helices, Dextrocardia, Spina bifida occulta, Low-set, posteriorly rotated ears, Hydro... ORPHA:2437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Abnormal helix morphology, Spina... ORPHA:1120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Schisis Association
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cleft palate, Sp... ORPHA:1104
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Low-set, posterio... ORPHA:1908
Caudal Duplication
Intestinal duplication, Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Diabetic Embryopathy
Abnormality of the neck, Transposition of the great arteries, Low-set, posteriorly rotated ears, ... ORPHA:1926
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Webbed neck, Branchial anomaly, Sensorineural hearing impairme... ORPHA:1131
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Spina bifida, Uplifted earlobe, Posteriorly rotated ears, Short neck OMIM:620439
Verheij Syndrome
Coloboma, Truncus arteriosus, Cleft palate, Short neck, Ventricular septal defect, Branchial cyst OMIM:615583
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Camptodactyly Syndrome, Guadalajara Type 1
Low-set, posteriorly rotated ears, Attached earlobe, Microtia, High palate, Spina bifida, Abnorma... ORPHA:1327
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida OMIM:207950
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Tethered cord, Aor... OMIM:617660
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Truncus arteriosus, Low-set ears, Pulmonic stenosis, Neonatal death, Tet... OMIM:601186
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spi... ORPHA:1393
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Sh... OMIM:252011
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Mosaic Trisomy 9
Dextrocardia, Webbed neck, Abnormal heart valve morphology, High palate, Low-set ears, Spina bifi... ORPHA:99776
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Single ventricle, Hearing impairment, Umbilical hernia, Abnormal cardiac septum morph... OMIM:308050
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri... OMIM:620294
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Abnormal pinna morphology, Microtia, Retinal coloboma, Spina bifi... ORPHA:2839
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Scimitar Syndrome
Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arterio... ORPHA:185
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Syringomyelia, Atrioventricular canal defect, Branchial anomaly, Coloboma, Abnormal helix morphol... ORPHA:453499
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Waardenburg Syndrome Type 1
Aganglionic megacolon, Meningocele, Spina bifida, Hearing impairment, Cleft palate, Congenital se... ORPHA:894
Trisomy 18
Narrow palate, Cyclopia, Anencephaly, Webbed neck, Esophageal atresia, Low-set, posteriorly rotat... ORPHA:3380
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Limb Body Wall Complex
Short umbilical cord, Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, Intestinal malr... ORPHA:1759
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida ORPHA:3169
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Fountain Syndrome
Sensorineural hearing impairment, Spina bifida occulta, Spina bifida ORPHA:3219
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Congenital Tracheomalacia
Patent ductus arteriosus, Esophageal atresia, Tracheoesophageal fistula, Abnormal heart morpholog... ORPHA:95430
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Sirenomelia, Anencephaly, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Spinal cord tumor, Cyclopia, Intestinal atresia, Encephalocele, Hydrocephalus, Branchial anomaly,... ORPHA:2162
Syringomyelia, Anencephaly, Encephalocele, Hydrocephalus, Low-set ears, Myelomeningocele, Spina b... ORPHA:63259
Holoprosencephaly 2
Semilobar holoprosencephaly, Cyclopia, Single ventricle, Alobar holoprosencephaly, Bilateral clef... OMIM:157170
Focal Dermal Hypoplasia
Iris coloboma, Duodenal atresia, Low-set ears, Spina bifida, Umbilical hernia, Hearing impairment... ORPHA:2092
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Neu-Laxova Syndrome 2
Low-set ears, High palate, Spina bifida, Cleft palate, Short neck OMIM:616038
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Broad neck, Webbed neck, Hydrocephalus, High palate, Spina bifida, Posterior... OMIM:613776
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Trisomy 20P
Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Ectopic anus, Low posterior hai... ORPHA:261318
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Patent foramen ovale, Double inle... OMIM:619702
Bor Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hearing impairment, Atresia of... ORPHA:107
Holoprosencephaly 1
Cyclopia, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle OMIM:236100
Branchiootic Syndrome
Abnormal middle ear morphology, Sensorineural hearing impairment, Hearing impairment, Conductive ... ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Protruding ear, Sensorineural hearing impairment, Branchial cyst ORPHA:435938
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Bilateral cleft palate, Low-set ears, Holoprosencephaly, Ventri... OMIM:601357
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Hamartomatous stomach polyps, Spina bifida, Cardiac fibroma, ... OMIM:109400
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Abnormal antihelix morphology, Abnormal hel... ORPHA:261337
Jacobsen Syndrome
Iris coloboma, Low-set, posteriorly rotated ears, Webbed neck, Duodenal atresia, Aplasia/Hypoplas... ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Torticollis, Low-set ears, Tethered cord, Spina bifida, Bifid uvul... OMIM:619480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Coloboma, Truncus arteri... ORPHA:508498
Vacterl With Hydrocephalus
Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Microtia, third degree, Anal atresia, Tra... ORPHA:3412
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Protruding ear, Intestinal pseudo-obstruction, Branchial anomaly, Coloboma, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Protruding ear, Intestinal pseudo-obstruction, Branchial anomaly, Coloboma, ... ORPHA:352665
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Short stature, Growth delay, Camptodactyly of finger, I... ORPHA:261330
Hallermann-Streiff Syndrome
Narrow palate, High, narrow palate, High palate, Low-set ears, Spina bifida, Natal tooth, Chorior... OMIM:234100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Iris coloboma, Low-set, posteriorly rotated ears, Meningocele, Hydrocephalus, Intestinal malrotat... ORPHA:3376
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Broad neck, Small placenta, Transposition of the great arteries... OMIM:256520
Hearing impairment, Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Lumbar Syndrome
Anal atresia, Ectopic anus, Myelomeningocele, Spina bifida ORPHA:83628
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Spina bifida, Hypoplastic left heart ORPHA:991
Fanconi Anemia
Abnormal aortic valve morphology, Aganglionic megacolon, Patent ductus arteriosus, Aplasia/Hypopl... ORPHA:84
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Patent ductus arteriosus, Esophagea... OMIM:192350
Nail-Patella Syndrome
Sensorineural hearing impairment, Cleft palate, Spina bifida OMIM:161200
22Q11.2 Deletion Syndrome
Chronic otitis media, Small earlobe, Intestinal malrotation, Umbilical hernia, Tricuspid atresia,... ORPHA:567
Cloacal Exstrophy
Intestinal duplication, Anal atresia, Myelomeningocele, Intestinal malrotation, Spina bifida ORPHA:93929
Neu-Laxova Syndrome
Spina bifida, Macrotia, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2671
Treacher-Collins Syndrome
Encephalocele, Rectovaginal fistula, Microtia, Glossoptosis, High palate, Tracheoesophageal fistu... ORPHA:861
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Atrioventricular canal defect, Meckel diverticulum, Spina bifida, Cleft palate, Te... OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Protruding ear, Recurrent otitis media, Dural ectasia, Hydrocephalus, Cardiomyopathy, Spina bifid... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Protruding ear, Recurrent otitis media, Dural ectasia, Hydrocephalus, Cardiomyopathy, Spina bifid... ORPHA:363958
Wildervanck Syndrome
Webbed neck, Meningocele, Facial palsy, Low posterior hairline, Short neck ORPHA:3456
Rubinstein-Taybi Syndrome 1
Narrow palate, Perimembranous ventricular septal defect, High, narrow palate, Spina bifida occult... OMIM:180849
Campomelic Dysplasia
Hydrocephalus, High palate, Low-set ears, Spina bifida, Hearing impairment, Conductive hearing im... OMIM:114290
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Hypertension, Growth delay, Intracranial hemorrhage, V... OMIM:614424
Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy, Macroglossia ORPHA:79321
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Spina bifida occulta, Meningocele, Short stature, Camptodactyly ... ORPHA:2311
Waardenburg Syndrome, Type 1
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida OMIM:193500
Cutis Laxa, Autosomal Recessive, Type Ib
Abnormal pinna morphology, High palate, Low-set ears, Spina bifida, Neonatal death, Intussuscepti... OMIM:614437
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord, Webbed neck OMIM:612918
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Patent foramen ovale, Microtia, Overfolded helix, Bilateral conductive ... OMIM:620186
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Low-set, posteriorly rotated ears, Cardiomyopathy, Macrotia, Short neck, S... ORPHA:175
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia, Short stature, Decreased muscle mass, Patent ductus... OMIM:130720
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Low-set ears, Spina bifida, Pulmonic stenosis, Cleft palate, P... OMIM:134780
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Aicardi Syndrome
Hiatus hernia, Cleft palate, Optic disc coloboma, Spina bifida OMIM:304050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hearing impairment, Branchial anomaly, Prominent antihelix, Posteriorly rotated ears ORPHA:466950
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Tether... OMIM:600145
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele ORPHA:588
Exstrophy-Epispadias Complex
Anal stenosis, Hydrocephalus, Anal atresia, Spina bifida, Abnormal heart morphology ORPHA:322
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Spina bifida occulta, Truncus arterio... ORPHA:508488
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Low-set ears, Spina bifida, Conductive hearing impairment, Cleft palat... OMIM:304120
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Cystic hygroma, Intrauterine growth retardation OMIM:603194
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Broad neck, Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomenin... OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... OMIM:300967
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Lateral Meningocele Syndrome
Meningocele, Low posterior hairline, Umbilical hernia, Short neck, Ventricular septal defect ORPHA:2789
Craniofacial Microsomia 1
Occipital encephalocele, Unilateral external ear deformity, Hydrocephalus, Branchial anomaly, Sen... OMIM:164210
Humero-Radial Synostosis
Meningocele ORPHA:3265
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Branchiooculofacial Syndrome
Branchial anomaly, Sensorineural hearing impairment, Microtia, Low-set ears, Hypoplastic superior... OMIM:113620
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, High palate, Hearing impairment, Tetralogy of Fallot, Patent ductus ... OMIM:619869
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Large placenta, Redundant neck skin, Microtia, Hypertrophic cardiomyopathy,... ORPHA:96334
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Witteveen-Kolk Syndrome
High, narrow palate, Glue ear, Sensorineural hearing impairment, High palate, Hearing impairment,... OMIM:613406
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Occipital meningocele, Short neck, A... OMIM:616546
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele, Hypoplastic left heart OMIM:277170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Redundant neck skin, Meningocele, Rhizomelic ... ORPHA:397715
Marfan Syndrome
Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Meningocele, Mitral val... ORPHA:558
Intrauterine growth retardation, Meningocele ORPHA:46059
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology, Flexio... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology, Flexio... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology, Flexio... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology, Flexio... ORPHA:93924
Phocomelia, Schinzel Type
Intrauterine growth retardation, Short neck, Disproportionate short stature, Meningocele ORPHA:2879
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent ductus arteriosus OMIM:267750
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele ORPHA:1010
Arima Syndrome
Growth delay, Hypertension, Occipital meningocele OMIM:243910
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Aprosencephaly OMIM:601374
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Occipital meningocele, Holoprosencephaly,... OMIM:610829
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Elbow flexion contracture, Occipital meningocele, Disproportionate short stature, Sho... OMIM:276820
Posterior Polymorphous Corneal Dystrophy
Corneal Dystrophy, Posterior Polymorphous, 1


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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