Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 predicted to be associated to Vwc2l by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Nanophthalmos 1 | Bilateral microphthalmos | OMIM:600165 | |
Microphthalmia, Isolated 7 | Microphthalmia | OMIM:613704 | |
Nanophthalmos 2 | Microphthalmia | OMIM:609549 | |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome | Microphthalmia, Anophthalmia | ORPHA:85275 | |
Microphthalmia, Isolated 1 | Microphthalmia, Anophthalmia | OMIM:251600 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated 2 | Microphthalmia | OMIM:610093 | |
Microphthalmia, Isolated, With Coloboma 6 | Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia | OMIM:613703 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
Microphthalmia, Isolated, With Coloboma 4 | Microphthalmia | OMIM:251505 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 | Microphthalmia | OMIM:616335 | |
Microphthalmia, Isolated, With Coloboma 7 | Microphthalmia | OMIM:614497 | |
Gombo Syndrome | Microphthalmia | OMIM:233270 | |
Microphthalmia, Isolated, With Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Microphthalmia, Isolated, With Coloboma 5 | Microphthalmia, Anophthalmia, Bilateral microphthalmos | OMIM:611638 | |
Microphthalmia, Isolated, With Coloboma 10 | Microphthalmia, Anophthalmia | OMIM:616428 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Microphthalmia, Syndromic 16 | Microphthalmia, Anophthalmia | OMIM:611038 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
Congenital Primary Aphakia | Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia | ORPHA:83461 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Microphthalmia | ORPHA:2432 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Facial Clefting, Oblique, 1 | Microphthalmia | OMIM:600251 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Fryns Microphthalmia Syndrome | Microphthalmia, Anophthalmia | OMIM:600776 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Microphthalmia, Isolated 8 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia | OMIM:615113 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development | Microphthalmia | OMIM:120433 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Adams-Oliver Syndrome 4 | Microphthalmia | OMIM:615297 | |
Craniotelencephalic Dysplasia | Microphthalmia, Optic nerve hypoplasia | OMIM:218670 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Microphthalmia, Syndromic 12 | Microphthalmia, Anophthalmia | OMIM:615524 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Craniotelencephalic Dysplasia | Microphthalmia, Septo-optic dysplasia | ORPHA:1528 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Oculocerebrocutaneous Syndrome | Microphthalmia, Anophthalmia | OMIM:164180 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Anterior Segment Dysgenesis 5 | Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia | OMIM:604229 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Meckel Syndrome, Type 8 | Microphthalmia, Anophthalmia | OMIM:613885 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Microphthalmia, Optic nerve hypoplasia | OMIM:615181 | |
Deafness, X-Linked 7 | Unilateral microphthalmos | OMIM:301018 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 | Microphthalmia | OMIM:613155 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Autosomal Dominant Keratitis | Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... | ORPHA:2334 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Microphthalmia | OMIM:613730 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Linear Skin Defects With Multiple Congenital Anomalies 2 | Microphthalmia | OMIM:300887 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Anterior Segment Dysgenesis 2 | Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia | OMIM:610256 | |
Cornea Plana 2, Autosomal Recessive | Microphthalmia | OMIM:217300 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Congenital Rubella Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:290 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Microphthalmia, Optic nerve hypoplasia | OMIM:614833 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Buphthalmos, Microphthalmia | OMIM:212550 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | ORPHA:2717 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Spondylo-Ocular Syndrome | Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:85194 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Bresek Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:85284 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:3378 | |
Microphthalmia, Syndromic 5 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610125 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Microphthalmia, Abnormally large globe | OMIM:615249 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
Osteopetrosis, Autosomal Recessive 8 | Unilateral microphthalmos | OMIM:615085 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Hydrolethalus | Microphthalmia, Anophthalmia | ORPHA:2189 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development | Microphthalmia | OMIM:152950 | |
Solitary Median Maxillary Central Incisor | Microphthalmia, Anophthalmia | OMIM:147250 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Microphthalmia With Brain And Digit Anomalies | Microphthalmia, Anophthalmia | ORPHA:139471 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Microphthalmia, Lens coloboma | OMIM:618914 | |
Temtamy Syndrome | Microphthalmia | OMIM:218340 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Microphthalmia, Optic nerve hypoplasia | ORPHA:370959 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies | Microphthalmia | OMIM:618494 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Microphthalmia, Anophthalmia | ORPHA:77298 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Coloboma, Ocular, Autosomal Dominant | Microphthalmia, Optic nerve aplasia | OMIM:120200 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Otodental Syndrome | Microphthalmia, Lens coloboma | ORPHA:2791 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Bilateral microphthalmos, Optic nerve hypoplasia | OMIM:607597 | |
Manitoba Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | OMIM:248450 | |
Microcephaly 20, Primary, Autosomal Recessive | Microphthalmia, Optic nerve hypoplasia | OMIM:617914 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Matthew-Wood Syndrome | Microphthalmia, Anophthalmia | ORPHA:2470 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Fanconi Anemia, Complementation Group I | Microphthalmia, Optic nerve hypoplasia | OMIM:609053 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Buphthalmos | OMIM:310600 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Microphthalmia With Limb Anomalies | Microphthalmia, Anophthalmia | OMIM:206920 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:2399 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Fanconi Anemia, Complementation Group R | Microphthalmia | OMIM:617244 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Walker-Warburg Syndrome | Microphthalmia, Anophthalmia | ORPHA:899 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies | Microphthalmia | OMIM:620098 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome | Microphthalmia | OMIM:241410 | |
Persistent Hyperplastic Primary Vitreous | Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia | ORPHA:91495 | |
Tetraamelia-Multiple Malformations Syndrome | Microphthalmia, Septo-optic dysplasia | ORPHA:3301 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | OMIM:616449 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Microphthalmia, Phthisis bulbi | OMIM:221900 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Microphthalmia, Anophthalmia | OMIM:615877 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
Frontonasal Dysplasia 2 | Microphthalmia | OMIM:613451 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Microphthalmia, Syndromic 3 | Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia | OMIM:206900 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Phace Association | Microphthalmia, Optic nerve hypoplasia | OMIM:606519 | |
Oculoauricular Syndrome | Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia | OMIM:612109 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Duane-Radial Ray Syndrome | Microphthalmia, Optic disc hypoplasia | OMIM:607323 | |
Linear Skin Defects With Multiple Congenital Anomalies 3 | Microphthalmia | OMIM:300952 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Microphthalmia, Optic nerve hypoplasia | OMIM:614643 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Stromme Syndrome | Microphthalmia, Optic nerve hypoplasia | OMIM:243605 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Vacterl With Hydrocephalus | Microphthalmia, Anophthalmia | ORPHA:3412 | |
Pierson Syndrome | Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... | OMIM:609049 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Microphthalmia, Optic nerve hypoplasia | OMIM:236670 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Ohdo Syndrome, X-Linked | Microphthalmia | OMIM:300895 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Microphthalmia, Anophthalmia | ORPHA:2250 | |
Premature Aging Syndrome, Penttinen Type | Microphthalmia | OMIM:601812 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Atelis Syndrome 2 | Microphthalmia | OMIM:620185 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Lymphedema-Distichiasis Syndrome | Microphthalmia | OMIM:153400 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Holoprosencephaly | Microphthalmia, Anophthalmia | ORPHA:2162 | |
Jacobsen Syndrome | Microphthalmia, Macular hypoplasia | OMIM:147791 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Acro-Renal-Ocular Syndrome | Microphthalmia, Optic disc hypoplasia | ORPHA:959 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:508498 | |
Basal Cell Nevus Syndrome 1 | Microphthalmia | OMIM:109400 | |
Histiocytoid Cardiomyopathy | Microphthalmia, Congenital aphakia | ORPHA:137675 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Holoprosencephaly 9 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610829 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Microgastria-Limb Reduction Defect Syndrome | Microphthalmia, Anophthalmia | ORPHA:2538 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Microphthalmia, Anophthalmia | ORPHA:2526 | |
Fraser Syndrome 2 | Microphthalmia | OMIM:617666 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:564 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Phace Syndrome | Microphthalmia, Lens coloboma, Optic nerve hypoplasia | ORPHA:42775 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Microphthalmia With Limb Anomalies | Microphthalmia, True anophthalmia | ORPHA:1106 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs | Microphthalmia | OMIM:601552 | |
Holoprosencephaly 7 | Microphthalmia, Bilateral microphthalmos | OMIM:610828 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia, Phthisis bulbi | OMIM:259770 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Buphthalmos, Microphthalmia, Hypoplasia of the retina | OMIM:253280 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Microphthalmia With Linear Skin Defects Syndrome | Microphthalmia, Anophthalmia | ORPHA:2556 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:468631 | |
Proboscis Lateralis | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | ORPHA:141099 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Microphthalmia | OMIM:620186 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Microphthalmia, Syndromic 2 | Microphthalmia, Phthisis bulbi, Anophthalmia | OMIM:300166 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Charge Syndrome | Microphthalmia, Anophthalmia | ORPHA:138 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:3472 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Focal Dermal Hypoplasia | Aniridia, Microphthalmia, Anophthalmia | OMIM:305600 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Microphthalmia | OMIM:612474 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Neuroocular Syndrome | Hypoplasia of the fovea, Microphthalmia, Lens coloboma | OMIM:619539 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Fraser Syndrome | Microphthalmia, Anophthalmia | ORPHA:2052 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Charge Syndrome | Microphthalmia, Anophthalmia, Unilateral microphthalmos | OMIM:214800 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:649 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Microphthalmia, Syndromic 6 | Microphthalmia, Anophthalmia | OMIM:607932 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
8Q24.3 Microdeletion Syndrome | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:508488 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Branchiooculofacial Syndrome | Microphthalmia, Anophthalmia | OMIM:113620 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
Mowat-Wilson Syndrome | Microphthalmia | OMIM:235730 | |
Townes-Brocks Syndrome | Microphthalmia | ORPHA:857 | |
Roberts-Sc Phocomelia Syndrome | Microphthalmia | OMIM:268300 | |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 | Microphthalmia | ORPHA:261537 | |
Mowat-Wilson Syndrome | Microphthalmia | ORPHA:2152 | |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation | Microphthalmia | ORPHA:261552 | |
Craniofacial Microsomia 1 | Microphthalmia, Anophthalmia | OMIM:164210 | |
Microphthalmia, Syndromic 1 | Microphthalmia, Anophthalmia | OMIM:309800 |
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 Vwc2l
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MGI Allele | Allele Type | Produced |
---|---|---|
Vwc2lem1(IMPC)Mbp | Intra-exon deletion | Mice, Tissue |
Vwc2ltm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Vwc2ltm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Vwc2ltm45015(L1L2_st0) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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