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 2 | Microphthalmia | OMIM:609549 | |
Nanophthalmos 1 | Bilateral microphthalmos | OMIM:600165 | |
Microphthalmia, Isolated 7 | Microphthalmia | OMIM:613704 | |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome | Anophthalmia, Microphthalmia | ORPHA:85275 | |
Microphthalmia, Isolated, With Coloboma 7 | Microphthalmia | OMIM:614497 | |
Macrosomia With Microphthalmia, Lethal | Microphthalmia | OMIM:248110 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Microphthalmia, Isolated 1 | Anophthalmia, Microphthalmia | OMIM:251600 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated, With Coloboma 6 | Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea | 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 | |
Gombo Syndrome | Microphthalmia | OMIM:233270 | |
Microphthalmia, Isolated, With Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microphthalmia, Isolated, With Coloboma 10 | Anophthalmia, Microphthalmia | OMIM:616428 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Microphthalmia, Isolated, With Coloboma 5 | Anophthalmia, Bilateral microphthalmos, Microphthalmia | OMIM:611638 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Microphthalmia, Isolated 3 | Anophthalmia, Microphthalmia | OMIM:611038 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
Congenital Primary Aphakia | Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia | ORPHA:83461 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Microphthalmia | ORPHA:2432 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Foveal Hypoplasia 2 | Microphthalmia, Hypoplasia of the fovea | OMIM:609218 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Fryns Microphthalmia Syndrome | Anophthalmia, Microphthalmia | OMIM:600776 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation | Microphthalmia | OMIM:120433 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Dextrocardia With Unusual Facies And Microphthalmia | Anophthalmia, Microphthalmia | OMIM:221950 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Microphthalmia, Syndromic 12 | Anophthalmia, Microphthalmia | OMIM:615524 | |
Faciothoracogenital Syndrome | Microphthalmia | OMIM:227320 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Ehlers-Danlos Syndrome, Beasley-Cohen Type | Bilateral microphthalmos | OMIM:608763 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Microphthalmia, Isolated 8 | Optic nerve hypoplasia, Microphthalmia | OMIM:615113 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Microphthalmia | OMIM:212550 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Meckel Syndrome, Type 8 | Anophthalmia, Microphthalmia | OMIM:613885 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Microcephaly 20, Primary, Autosomal Recessive | Optic nerve hypoplasia, Microphthalmia | OMIM:617914 | |
Craniotelencephalic Dysplasia | Optic nerve hypoplasia, Microphthalmia | OMIM:218670 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Isolated Optic Nerve Hypoplasia/Aplasia | Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... | ORPHA:137902 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Craniotelencephalic Dysplasia | Microphthalmia, Septo-optic dysplasia | ORPHA:1528 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Manitoba Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | OMIM:248450 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Oculocerebrocutaneous Syndrome | Anophthalmia, Microphthalmia | OMIM:164180 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Anterior Segment Dysgenesis 5 | Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris | OMIM:604229 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Anterior Segment Dysgenesis 2 | Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia | OMIM:610256 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Norrie Disease | Microphthalmia, Hypoplasia of the iris | OMIM:310600 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Autosomal Dominant Keratitis | Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... | ORPHA:2334 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Optic nerve hypoplasia, Microphthalmia | OMIM:615181 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Congenital Rubella Syndrome | Microphthalmia, Aplasia/Hypoplasia of the iris | ORPHA:290 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Optic nerve hypoplasia, Microphthalmia | OMIM:614833 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
Spondylo-Ocular Syndrome | Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:85194 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | ORPHA:2717 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Trisomy 13 | Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris | ORPHA:3378 | |
Bresek Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:85284 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:2399 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Microphthalmia, Syndromic 5 | Anophthalmia, Optic nerve hypoplasia, Microphthalmia | OMIM:610125 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Abnormally large globe, Microphthalmia | OMIM:615249 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Anophthalmia, Microphthalmia | OMIM:615877 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Solitary Median Maxillary Central Incisor | Anophthalmia, Microphthalmia | OMIM:147250 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation | Microphthalmia | OMIM:152950 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Microphthalmia With Limb Anomalies | Anophthalmia, Microphthalmia | OMIM:206920 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Hydrolethalus | Anophthalmia, Microphthalmia | ORPHA:2189 | |
Microphthalmia With Brain And Digit Anomalies | Anophthalmia, Microphthalmia | ORPHA:139471 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Lens coloboma, Microphthalmia | OMIM:618914 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Coloboma, Ocular, Autosomal Dominant | Optic nerve aplasia, Microphthalmia | OMIM:120200 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Anophthalmia, Microphthalmia | ORPHA:77298 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Optic nerve hypoplasia, Bilateral microphthalmos | OMIM:607597 | |
Spondyloepiphyseal Dysplasia, Nishimura Type | Microphthalmia | ORPHA:163649 | |
Matthew-Wood Syndrome | Anophthalmia, Microphthalmia | ORPHA:2470 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Optic nerve hypoplasia, Microphthalmia | ORPHA:370959 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Otodental Syndrome | Lens coloboma, Microphthalmia | ORPHA:2791 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Fanconi Anemia, Complementation Group I | Optic nerve hypoplasia, Microphthalmia | OMIM:609053 | |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type | Bilateral microphthalmos | OMIM:600122 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Microphthalmia, Syndromic 3 | Anophthalmia, Optic nerve hypoplasia, Microphthalmia | OMIM:206900 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects | Microphthalmia | OMIM:600123 | |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs | Microphthalmia | OMIM:601552 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Walker-Warburg Syndrome | Anophthalmia, Microphthalmia | ORPHA:899 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Phthisis bulbi, Microphthalmia | OMIM:221900 | |
Persistent Hyperplastic Primary Vitreous | Macular hypoplasia, Buphthalmos, Phthisis bulbi, Microphthalmia | ORPHA:91495 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
Encephalocraniocutaneous Lipomatosis | Microphthalmia, Hypoplasia of the iris | OMIM:613001 | |
Tetraamelia-Multiple Malformations Syndrome | Microphthalmia, Septo-optic dysplasia | ORPHA:3301 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Subaortic Stenosis--Short Stature Syndrome | Microphthalmia | OMIM:271960 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
Phace Association | Optic nerve hypoplasia, Microphthalmia | OMIM:606519 | |
Osteoporosis-Pseudoglioma Syndrome | Phthisis bulbi, Microphthalmia | OMIM:259770 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Oculoauricular Syndrome | Microphakia, Macular hypoplasia, Phthisis bulbi, Microphthalmia | OMIM:612109 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Optic nerve hypoplasia, Microphthalmia | OMIM:614643 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Duane-Radial Ray Syndrome | Optic disc hypoplasia, Microphthalmia | OMIM:607323 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Anophthalmia, Microphthalmia | ORPHA:2250 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Galloway-Mowat Syndrome 1 | Microphthalmia, Hypoplasia of the iris | OMIM:251300 | |
Stromme Syndrome | Optic nerve hypoplasia, Microphthalmia | OMIM:243605 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Vacterl With Hydrocephalus | Anophthalmia, Microphthalmia | ORPHA:3412 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Microphthalmia, Optic nerve hypoplasia | OMIM:236670 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Focal Dermal Hypoplasia | Microphthalmia, Hypoplasia of the iris | ORPHA:2092 | |
Dubowitz Syndrome | Microphthalmia, Hypoplasia of the iris | OMIM:223370 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Incontinentia Pigmenti | Microphthalmia, Hypoplasia of the fovea | OMIM:308300 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Jacobsen Syndrome | Macular hypoplasia, Microphthalmia | OMIM:147791 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Holoprosencephaly | Anophthalmia, Microphthalmia | ORPHA:2162 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Acro-Renal-Ocular Syndrome | Optic disc hypoplasia, Microphthalmia | ORPHA:959 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Craniofacial Microsomia | Anophthalmia, Microphthalmia | OMIM:164210 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:508498 | |
Basal Cell Nevus Syndrome | Microphthalmia | OMIM:109400 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Meckel Syndrome | Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris | ORPHA:564 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Holoprosencephaly 9 | Anophthalmia, Optic nerve hypoplasia, Microphthalmia | OMIM:610829 | |
Histiocytoid Cardiomyopathy | Congenital aphakia, Microphthalmia | ORPHA:137675 | |
Cockayne Syndrome B | Microphthalmia, Hypoplasia of the iris | OMIM:133540 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Phace Syndrome | Optic nerve hypoplasia, Lens coloboma, Microphthalmia | ORPHA:42775 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Microgastria-Limb Reduction Defect Syndrome | Anophthalmia, Microphthalmia | ORPHA:2538 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Anophthalmia, Microphthalmia | ORPHA:2526 | |
Fanconi Anemia | Microphthalmia, Aplasia/Hypoplasia of the iris | ORPHA:84 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Hypoplasia of the retina, Buphthalmos, Microphthalmia | OMIM:253280 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Microphthalmia With Linear Skin Defects Syndrome | Anophthalmia, Microphthalmia | ORPHA:2556 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Microphthalmia With Limb Anomalies | True anophthalmia, Microphthalmia | ORPHA:1106 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Optic nerve hypoplasia, Bilateral microphthalmos | ORPHA:468631 | |
Proboscis Lateralis | Anophthalmia, Optic nerve hypoplasia, Microphthalmia | ORPHA:141099 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
Microphthalmia, Syndromic 2 | Anophthalmia, Phthisis bulbi, Microphthalmia | OMIM:300166 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Charge Syndrome | Anophthalmia, Microphthalmia | ORPHA:138 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Focal Dermal Hypoplasia | Anophthalmia, Microphthalmia, Aniridia | OMIM:305600 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Holoprosencephaly 7 | Bilateral microphthalmos | OMIM:610828 | |
Yunis-Varon Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:3472 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Fraser Syndrome | Anophthalmia, Microphthalmia | ORPHA:2052 | |
Neuroocular Syndrome | Lens coloboma, Microphthalmia, Hypoplasia of the fovea | OMIM:619539 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Charge Syndrome | Anophthalmia, Unilateral microphthalmos, Microphthalmia | OMIM:214800 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Norrie Disease | Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris | ORPHA:649 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Microphthalmia, Hypoplasia of the iris | OMIM:175780 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
Branchiooculofacial Syndrome | Anophthalmia, Microphthalmia | OMIM:113620 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
Microphthalmia, Syndromic 6 | Anophthalmia, Microphthalmia | OMIM:607932 | |
Townes-Brocks Syndrome | Microphthalmia | ORPHA:857 | |
Mowat-Wilson Syndrome | Microphthalmia | OMIM:235730 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
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 | |
Microphthalmia, Syndromic 1 | Anophthalmia, Microphthalmia | OMIM:309800 | |
8Q24.3 Microdeletion Syndrome | Optic nerve hypoplasia, Bilateral microphthalmos | ORPHA:508488 |
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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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