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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, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... ORPHA:2345
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... 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
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Meckel Syndrome 14
Occipital encephalocele, Short neck, Increased nuchal translucency, Holoprosencephaly, Low-set ea... OMIM:619879
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Dextrocardia, Spina bifida, Hydroc... ORPHA:2437
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Cleft palate... ORPHA:1104
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Situs inversus total... ORPHA:1908
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spinal cord lesion, Spina bifida ORPHA:1756
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal... ORPHA:1926
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1131
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Cleft palate, Coloboma, Truncus arteriosus OMIM:615583
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Spina bifida, Abnormality of dental eruption... ORPHA:1327
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, ... OMIM:617660
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Neonatal death, Pul... OMIM:601186
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningo... ORPHA:1393
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Abnormal cardiac septum morphology, Single ventricle, Umbilical hernia, Hearing impai... OMIM:308050
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... ORPHA:99776
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Spina bifida, Hydrocephalus, Cleft palate, Microtia, Retinal coloboma,... ORPHA:2839
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, Cl... ORPHA:894
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Ab... ORPHA:453499
Trisomy 18
Low-set, posteriorly rotated ears, Ventricular septal defect, Spina bifida, Esophageal atresia, A... ORPHA:3380
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Diastomatomyelia, Meningocele, Duodenal stenosis, Abnormal ... ORPHA:1759
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Fountain Syndrome
Sensorineural hearing impairment, Spina bifida occulta, Spina bifida ORPHA:3219
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Holoprosencephaly 2
Median cleft lip and palate, Cyclopia, Remnants of the hyaloid vascular system, Alobar holoprosen... OMIM:157170
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Holoprosencephaly
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:2162
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Duodenal atresia, Abnormal car... ORPHA:2092
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent d... OMIM:270100
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... OMIM:113650
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Cleft palate, High palate, Low-set ears OMIM:616038
Chromosome 17P13.1 Deletion Syndrome
Posteriorly rotated ears, Spina bifida, Short neck, High, narrow palate, Hydrocephalus, High pala... OMIM:613776
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... OMIM:619702
Trisomy 20P
Low-set, posteriorly rotated ears, Spina bifida, Short neck, Protruding ear, Low posterior hairli... ORPHA:261318
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosence... OMIM:601357
Holoprosencephaly 1
Alobar holoprosencephaly, Single ventricle, Cyclopia, Ethmocephaly, Median cleft lip and palate OMIM:236100
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Cleft palate, Atresia of the external audito... ORPHA:52429
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... OMIM:109400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Sensorineural hearing impairment, Protruding ear ORPHA:435938
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Spina bifid... ORPHA:2308
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Posteriorly rotated ears, Spina bifida, Patent ductus arteriosus, Cup... OMIM:619480
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tra... ORPHA:3412
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Short neck, C... ORPHA:508498
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Optic disc... ORPHA:261337
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:352665
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Shor... ORPHA:261330
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, High, narrow palate, Optic disc coloboma, Narrow palate, High palate, ... OMIM:234100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Short neck, Hydrocephalus, Meningocele... ORPHA:3376
Neu-Laxova Syndrome 1
Broad neck, Ventricular septal defect, Spina bifida, Short neck, Patent ductus arteriosus, Cleft ... OMIM:256520
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment ORPHA:2260
22Q11.2 Deletion Syndrome
Short neck, Conductive hearing impairment, Atrial septal defect, Small earlobe, Spina bifida, Pat... ORPHA:567
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Spina bifida, External ear malformation, Aplasia/Hypo... ORPHA:84
Nail-Patella Syndrome
Cleft palate, Sensorineural hearing impairment, Spina bifida OMIM:161200
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia ORPHA:93929
Neu-Laxova Syndrome
Spina bifida, Submucous cleft hard palate, Cleft palate, Macrotia, Bifid uvula ORPHA:2671
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Esophageal atres... OMIM:192350
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft pal... OMIM:274000
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft pala... ORPHA:861
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Low posterior hairline, Webbed neck ORPHA:3456
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Simple ear, High, narrow palate, Patent ductus arteriosu... OMIM:180849
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay, Intracranial ... OMIM:614424
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Meningocele,... ORPHA:2311
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormal heart morphology... OMIM:114290
Waardenburg Syndrome, Type 1
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida OMIM:193500
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Neural tube defect ORPHA:79321
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Tethered cord, Spinal dysraphism OMIM:612918
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Mixed hearing impairment, Iris coloboma, Conductive hearing impairme... OMIM:620186
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Aganglionic megacolon, Short neck, Malabsorption, Spinal dysra... ORPHA:175
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short stature, Short nec... OMIM:130720
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Aicardi Syndrome
Cleft palate, Optic disc coloboma, Spina bifida, Hiatus hernia OMIM:304050
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment ORPHA:466950
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Exstrophy-Epispadias Complex
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia ORPHA:322
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Spina bifida, Short neck, Conductive hearing impairment, Hydrocephalus,... OMIM:304120
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma OMIM:603194
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Dextrocardia, Short neck, Situs inversus totalis, Hydrocephalus, Myelomeningocele,... OMIM:613686
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia ORPHA:2789
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Humero-Radial Synostosis
Meningocele ORPHA:3265
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens... OMIM:164210
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Branchiooculofacial Syndrome
Posteriorly rotated ears, Short neck, Malrotation of colon, Pyloric stenosis, Sensorineural heari... OMIM:113620
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Limitation of neck motion, Neura... ORPHA:268810
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Posteriorly rotated ears, Short neck, Large place... ORPHA:96334
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Double inlet left ventricle, High palate, Atrial septal defect, Tetralo... OMIM:619869
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Anencephaly, Atrial septal defect, Oc... OMIM:616546
Witteveen-Kolk Syndrome
Branchial fistula, Uplifted earlobe, High, narrow palate, Sensorineural hearing impairment, Cuppe... OMIM:613406
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
Occipital meningocele, Hypoplastic left heart, Short stature OMIM:277170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Short stature, Rhizomelic leg shortening, Meningoce... ORPHA:397715
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Growth delay, Neura... ORPHA:93924
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Meningocele, Mitra... ORPHA:558
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Short neck ORPHA:2879
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta 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
Growth delay, Occipital meningocele, Hypertension OMIM:243910
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula OMIM:601374
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Disproportionate short stature, Elbow flexion contracture, Occipital meningocele, Bro... 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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