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

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 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
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... ORPHA:2476
Isolated Klippel-Feil Syndrome
Webbed neck, Hearing impairment, Ventricular septal defect, Low posterior hairline, Congenital mu... ORPHA:2345
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida 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
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Acalvaria
Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... OMIM:306955
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Meckel Syndrome 14
Low-set ears, Occipital encephalocele, Increased nuchal translucency, Short neck, Single ventricl... OMIM:619879
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Czeizel-Losonci Syndrome
Hypoplastic helices, Thickened nuchal skin fold, Myelomeningocele, Low-set, posteriorly rotated e... ORPHA:2437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Atrioventricular canal defect, Abnormal aortic valve morphology, Bicus... ORPHA:1120
Schisis Association
Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anencephaly, Cleft palate ORPHA:63862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Bilateral cleft palate, Sp... ORPHA:1104
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Situs inversus totalis... ORPHA:1908
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Intestinal duplication, Spina bifida ORPHA:1756
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Ab... ORPHA:1926
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly,... ORPHA:1131
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Short neck, Spina bifida, Uplifted earlobe, Posteriorly rotated ears OMIM:620439
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck, Coloboma, Cleft palate OMIM:615583
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Camptodactyly Syndrome, Guadalajara Type 1
Low-set, posteriorly rotated ears, Abnormality of dental eruption, Attached earlobe, Spina bifida... ORPHA:1327
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Cleft palate ORPHA:957
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida OMIM:207950
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Mitral stenosis, S... OMIM:617660
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Low-set ears, Tetralogy of Fallot, Truncus arteriosus, Ventricular septa... OMIM:601186
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:1393
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... OMIM:609166
Mosaic Trisomy 9
Low-set ears, Webbed neck, Abnormal heart valve morphology, Intestinal malrotation, Endocardial f... ORPHA:99776
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hearing impairment, Umbilical hernia, Single ventricle, Abnormal cardiac septum morphology, Still... OMIM:308050
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Low-set ears, Unbalanced atrioventricular canal defect, Mitral atresia, T... OMIM:620294
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Retinal coloboma, Hydrocephalus, Spina bifida, Iris coloboma, Abno... ORPHA:2839
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Scimitar Syndrome
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... ORPHA:185
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Bifid uvula, Abnormal helix morphology, Hearing impairment, Abnormal heart morpho... ORPHA:453499
Branchiogenic Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Conductive hearing imp... ORPHA:50815
Waardenburg Syndrome Type 1
Hearing impairment, Congenital sensorineural hearing impairment, Aganglionic megacolon, Spina bif... ORPHA:894
Trisomy 18
Pointed helix, Narrow palate, Webbed neck, Iris coloboma, Cyclopia, Low-set, posteriorly rotated ... ORPHA:3380
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea... OMIM:602588
Limb Body Wall Complex
Iris coloboma, Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, ... ORPHA:2369
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Diastomatomyelia,... ORPHA:1759
Sirenomelia
Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida ORPHA:3169
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Fountain Syndrome
Spina bifida occulta, Spina bifida, Sensorineural hearing impairment ORPHA:3219
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Tracheoe... ORPHA:95430
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly ORPHA:63260
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... ORPHA:2162
Iniencephaly
Low-set ears, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Hydrocephalus, S... ORPHA:63259
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Media... OMIM:157170
Focal Dermal Hypoplasia
Low-set ears, Hearing impairment, Chorioretinal coloboma, Umbilical hernia, Ventricular septal de... ORPHA:2092
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Branchiootorenal Syndrome 1
Bifid uvula, Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Co... OMIM:113650
Neu-Laxova Syndrome 2
Low-set ears, Short neck, Spina bifida, High palate, Cleft palate OMIM:616038
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Webbed neck, Broad neck, Umbilical hernia, Short neck, Hydrocephalus, Spina ... OMIM:613776
Trisomy 20P
Umbilical hernia, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Protruding ea... ORPHA:261318
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Bor Syndrome
Atresia of the external auditory canal, Branchial cyst, Hearing impairment, Enlarged cochlear aqu... ORPHA:107
Holoprosencephaly 1
Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle, Cyclopia OMIM:236100
Branchiootic Syndrome
Branchial fistula, Atresia of the external auditory canal, Hearing impairment, Conductive hearing... ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Protruding ear, Branchial cyst, Sensorineural hearing impairment ORPHA:435938
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Anterior encephalocele, Bilateral cleft palate, Ventricular septal defect, Coloboma... OMIM:601357
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Hamartomatous stomach polyps, ... OMIM:109400
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Webbed neck, Abnormal helix morphology, Branchial fistula, Optic disc coloboma, Abn... ORPHA:261337
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Aplasia/Hypoplasia of the earlobes, Webbed neck, I... ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Bifid uvula, Cupped ear, Atrioventricular canal defect, Patent ductus arteriosus, S... OMIM:619480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Truncus... ORPHA:508498
Vacterl With Hydrocephalus
Microtia, third degree, Anotia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spi... ORPHA:3412
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... ORPHA:352665
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation... ORPHA:261330
Hallermann-Streiff Syndrome
High, narrow palate, Low-set ears, Natal tooth, Chorioretinal coloboma, Optic disc coloboma, Spin... OMIM:234100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Triploidy
Intestinal malrotation, Low-set, posteriorly rotated ears, Short neck, Hydrocephalus, Abnormal ca... ORPHA:3376
Neu-Laxova Syndrome 1
Low-set ears, Broad neck, Hydranencephaly, Macrotia, Small placenta, Short umbilical cord, Patent... OMIM:256520
Lumbar Syndrome
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida ORPHA:83628
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst, Hearing impairment ORPHA:2260
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele ORPHA:991
Fanconi Anemia
Meckel diverticulum, Hearing impairment, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy... ORPHA:84
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus... OMIM:192350
Nail-Patella Syndrome
Spina bifida, Cleft palate, Sensorineural hearing impairment OMIM:161200
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Ventricular septal defect, Short neck, Atrial septal defect, An... ORPHA:567
Cloacal Exstrophy
Intestinal duplication, Myelomeningocele, Intestinal malrotation, Spina bifida, Anal atresia ORPHA:93929
Neu-Laxova Syndrome
Bifid uvula, Macrotia, Submucous cleft hard palate, Spina bifida, Cleft palate ORPHA:2671
Treacher-Collins Syndrome
Branchial fistula, Conductive hearing impairment, Narrow internal auditory canal, Encephalocele, ... ORPHA:861
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defec... OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Hearing impairment, Cardiomyopathy, Macrotia, Abnormal heart morphology, Recurrent... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Hearing impairment, Cardiomyopathy, Macrotia, Abnormal heart morphology, Recurrent... ORPHA:363958
Wildervanck Syndrome
Webbed neck, Low posterior hairline, Short neck, Meningocele, Facial palsy ORPHA:3456
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, High, narrow palate, Narrow palate, Low-set ears, Hearing impairment, Mit... OMIM:180849
Campomelic Dysplasia
Low-set ears, Spinal dysraphism, Conductive hearing impairment, Hearing impairment, Abnormal hear... OMIM:114290
Joubert Syndrome 14
Growth delay, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial ... OMIM:614424
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect ORPHA:79321
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... ORPHA:2311
Waardenburg Syndrome, Type 1
Myelomeningocele, Congenital sensorineural hearing impairment, Spina bifida OMIM:193500
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Neonatal death, Abnormal pinna morphology, Spina bifida, High palate, Right ventric... OMIM:614437
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Spinal dysraphism, Tethered cord OMIM:612918
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bifid uvula, Iris coloboma, Natal tooth, Branchial cyst, Atresia of the external au... OMIM:620186
Cartilage-Hair Hypoplasia
Spinal dysraphism, Cardiomyopathy, Low-set, posteriorly rotated ears, Aganglionic megacolon, Shor... ORPHA:175
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short ... OMIM:130720
Femoral-Facial Syndrome
Low-set ears, Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Cleft p... OMIM:134780
Aicardi Syndrome
Hiatus hernia, Optic disc coloboma, Spina bifida, Cleft palate OMIM:304050
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Posteriorly rotated ears, Branchial anomaly, Hearing impairment ORPHA:466950
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, M... OMIM:600145
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Exstrophy-Epispadias Complex
Anal stenosis, Abnormal heart morphology, Hydrocephalus, Spina bifida, Anal atresia ORPHA:322
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Branchial cyst, Abnormal he... ORPHA:508488
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Otopalatodigital Syndrome, Type Ii
Low-set ears, Conductive hearing impairment, Stillbirth, Umbilical hernia, Short neck, Atrial sep... OMIM:304120
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Spondylocostal Dysostosis 4, Autosomal Recessive
Broad neck, Myelomeningocele, Situs inversus totalis, Short neck, Hydrocephalus, Dextrocardia, Sh... OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short neck, Meningocele ORPHA:2789
Craniofacial Microsomia 1
Duplicated tragus, Occipital encephalocele, Atresia of the external auditory canal, Conductive he... OMIM:164210
Humero-Radial Synostosis
Meningocele ORPHA:3265
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Branchiooculofacial Syndrome
Low-set ears, Iris coloboma, Conductive hearing impairment, Hearing impairment, Fusion of middle ... OMIM:113620
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Posterior Meningocele
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... ORPHA:268810
Neurocardiofaciodigital Syndrome
Hearing impairment, Tetralogy of Fallot, Atrial septal defect, High palate, Double inlet left ven... OMIM:619869
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, Redundant neck skin, Ventricular ... ORPHA:96334
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Witteveen-Kolk Syndrome
High, narrow palate, Branchial fistula, Hearing impairment, Cupped ear, Glue ear, Sensorineural h... OMIM:613406
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Atrial septal ... OMIM:616546
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Orofaciodigital Syndrome Vi
Short stature, Hypoplastic left heart, Occipital meningocele OMIM:277170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Redundant neck ski... ORPHA:397715
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Abnormal left ventricular function, Congestive hea... ORPHA:558
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Short stature, Flexion... ORPHA:93924
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Disproportionate short stature, Short neck ORPHA:2879
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Flexion contracture of finger ORPHA:1010
Arima Syndrome
Hypertension, Occipital meningocele, Growth delay OMIM:243910
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Aprosencephaly OMIM:601374
Holoprosencephaly 9
Alobar holoprosencephaly, Short neck, Hydrocephalus, Short stature, Holoprosencephaly, Occipital ... OMIM:610829
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Disproportionate short stature, Elbow flexion contracture, 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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