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 Prcp 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 | Anophthalmia, Microphthalmia | ORPHA:85275 | |
Microphthalmia, Isolated 1 | Anophthalmia, Microphthalmia | OMIM:251600 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated 2 | Microphthalmia | OMIM:610093 | |
Microphthalmia/Coloboma 6 | Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos | OMIM:613703 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
Microphthalmia/Coloboma 4 | Microphthalmia | OMIM:251505 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 | Microphthalmia | OMIM:616335 | |
Microphthalmia/Coloboma 7 | Microphthalmia | OMIM:614497 | |
Gombo Syndrome | Microphthalmia | OMIM:233270 | |
Microphthalmia/Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Microphthalmia/Coloboma 10 | Anophthalmia, Microphthalmia | OMIM:616428 | |
Microphthalmia/Coloboma 5 | Anophthalmia, Bilateral microphthalmos, Microphthalmia | OMIM:611638 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Microphthalmia, Syndromic 16 | Anophthalmia, Microphthalmia | OMIM:611038 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Microphthalmia | ORPHA:2432 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Facial Clefting, Oblique, 1 | Microphthalmia | OMIM:600251 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Microphthalmia, Isolated 8 | True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia | 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 | |
Fryns Microphthalmia Syndrome | Anophthalmia, Microphthalmia | OMIM:600776 | |
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 | Optic nerve hypoplasia, Microphthalmia | OMIM:218670 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Microphthalmia, Syndromic 12 | Anophthalmia, Microphthalmia | OMIM:615524 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Craniotelencephalic Dysplasia | Septo-optic dysplasia, Microphthalmia | ORPHA:1528 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
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 | Anophthalmia, Microphthalmia | OMIM:164180 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Anterior Segment Dysgenesis 5 | Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris | OMIM:604229 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Congenital Primary Aphakia | Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... | ORPHA:83461 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Optic nerve hypoplasia, Microphthalmia | OMIM:615181 | |
Meckel Syndrome, Type 8 | Anophthalmia, Microphthalmia | OMIM:613885 | |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome | Microphthalmia | OMIM:601794 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 | Microphthalmia | OMIM:613155 | |
Deafness, X-Linked 7 | Unilateral microphthalmos | OMIM:301018 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Autosomal Dominant Keratitis | Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... | ORPHA:2334 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Unilateral microphthalmos, Bilateral microphthalmos | OMIM:619318 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Microphthalmia | OMIM:613730 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
Linear Skin Defects With Multiple Congenital Anomalies 2 | Microphthalmia | OMIM:300887 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Cornea Plana 2, Autosomal Recessive | Microphthalmia | OMIM:217300 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Anterior Segment Dysgenesis 2 | Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia | OMIM:610256 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
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 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Buphthalmos, Microphthalmia | OMIM:212550 | |
Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | ORPHA:2717 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Optic nerve hypoplasia, Microphthalmia | OMIM:614833 | |
Spondylo-Ocular Syndrome | Aplasia/Hypoplasia of the lens, Microphthalmia | ORPHA:85194 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Bresek Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:85284 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia | ORPHA:3378 | |
Microphthalmia, Syndromic 5 | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | OMIM:610125 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Abnormally large globe, Microphthalmia | OMIM:615249 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 | Microphthalmia | OMIM:301108 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
Osteopetrosis, Autosomal Recessive 8 | Unilateral microphthalmos | OMIM:615085 | |
Hydrolethalus | Anophthalmia, Microphthalmia | ORPHA:2189 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Lens coloboma, Microphthalmia | OMIM:618914 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development | Microphthalmia | OMIM:152950 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Solitary Median Maxillary Central Incisor | Anophthalmia, Microphthalmia | OMIM:147250 | |
Temtamy Syndrome | Microphthalmia | OMIM:218340 | |
Microphthalmia With Brain And Digit Anomalies | Anophthalmia, Microphthalmia | ORPHA:139471 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Optic nerve hypoplasia, Microphthalmia | ORPHA:370959 | |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies | Microphthalmia | OMIM:618494 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Anophthalmia, Microphthalmia | ORPHA:77298 | |
Microphthalmia/Coloboma 12 | Optic nerve aplasia, Microphthalmia | OMIM:120200 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Otodental Syndrome | Lens coloboma, Microphthalmia | ORPHA:2791 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Bilateral microphthalmos, Optic nerve hypoplasia | OMIM:607597 | |
Microcephaly 20, Primary, Autosomal Recessive | Optic nerve hypoplasia, Microphthalmia | OMIM:617914 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Matthew-Wood Syndrome | Anophthalmia, Microphthalmia | ORPHA:2470 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Manitoba Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | OMIM:248450 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Fanconi Anemia, Complementation Group I | Optic nerve hypoplasia, Microphthalmia | OMIM:609053 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Norrie Disease | Hypoplasia of the iris, Buphthalmos, Microphthalmia | OMIM:310600 | |
Microphthalmia With Limb Anomalies | Anophthalmia, Microphthalmia | OMIM:206920 | |
Garg-Mishra Progeroid Syndrome | Microphthalmia | OMIM:620601 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Microphthalmia/Coloboma 9 | Microphthalmia | OMIM:615145 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:2399 | |
Fanconi Anemia, Complementation Group R | Microphthalmia | OMIM:617244 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
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 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Walker-Warburg Syndrome | Anophthalmia, Microphthalmia | ORPHA:899 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies | Microphthalmia | OMIM:620098 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Persistent Hyperplastic Primary Vitreous | Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia | ORPHA:91495 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome | Microphthalmia | OMIM:241410 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | OMIM:616449 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Phthisis bulbi, Buphthalmos, Microphthalmia | OMIM:221900 | |
Tetraamelia-Multiple Malformations Syndrome | Septo-optic dysplasia, Microphthalmia | ORPHA:3301 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Anophthalmia, Microphthalmia | OMIM:615877 | |
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 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Oculoauricular Syndrome | Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia | OMIM:612109 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Microphthalmia, Syndromic 3 | Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia | OMIM:206900 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Phace Association | Optic nerve hypoplasia, Microphthalmia | OMIM:606519 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Duane-Radial Ray Syndrome | Optic disc hypoplasia, Microphthalmia | 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 | Optic nerve hypoplasia, Microphthalmia | OMIM:614643 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Stromme Syndrome | Optic nerve hypoplasia, Microphthalmia | OMIM:243605 | |
Fanconi Anemia, Complementation Group N | Microphthalmia | OMIM:610832 | |
Vacterl With Hydrocephalus | Anophthalmia, Microphthalmia | ORPHA:3412 | |
Pierson Syndrome | Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... | OMIM:609049 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Optic nerve hypoplasia, Microphthalmia | OMIM:236670 | |
Ohdo Syndrome, X-Linked | Microphthalmia | OMIM:300895 | |
Premature Aging Syndrome, Penttinen Type | Microphthalmia | OMIM:601812 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Anophthalmia, Microphthalmia | ORPHA:2250 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Atelis Syndrome 2 | Microphthalmia | OMIM:620185 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Lymphedema-Distichiasis Syndrome | Microphthalmia | OMIM:153400 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy | Microphthalmia | OMIM:608940 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Holoprosencephaly | Anophthalmia, Microphthalmia | ORPHA:2162 | |
Jacobsen Syndrome | Macular hypoplasia, Microphthalmia | OMIM:147791 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Acro-Renal-Ocular Syndrome | Optic disc hypoplasia, Microphthalmia | ORPHA:959 | |
Basal Cell Nevus Syndrome 1 | Microphthalmia | OMIM:109400 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:508498 | |
Microgastria-Limb Reduction Defect Syndrome | Anophthalmia, Microphthalmia | ORPHA:2538 | |
Histiocytoid Cardiomyopathy | Congenital aphakia, Microphthalmia | ORPHA:137675 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Anophthalmia, Microphthalmia | ORPHA:2526 | |
Fraser Syndrome 2 | Microphthalmia | OMIM:617666 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia | ORPHA:564 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Phace Syndrome | Lens coloboma, Optic nerve hypoplasia, Microphthalmia | ORPHA:42775 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Traboulsi Syndrome | Microphthalmia | OMIM:601552 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Microphthalmia With Limb Anomalies | True anophthalmia, Microphthalmia | ORPHA:1106 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Holoprosencephaly 7 | Bilateral microphthalmos, Microphthalmia | OMIM:610828 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Osteoporosis-Pseudoglioma Syndrome | Phthisis bulbi, Microphthalmia | OMIM:259770 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Microphthalmia With Linear Skin Defects Syndrome | Anophthalmia, Microphthalmia | ORPHA:2556 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:468631 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Microphthalmia, Syndromic 2 | Phthisis bulbi, Anophthalmia, Microphthalmia | OMIM:300166 | |
Proboscis Lateralis | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | ORPHA:141099 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Microphthalmia | OMIM:620186 | |
Holoprosencephaly 9 | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | OMIM:610829 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Buphthalmos, Hypoplasia of the retina, Microphthalmia | OMIM:253280 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Charge Syndrome | Anophthalmia, Microphthalmia | ORPHA:138 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:3472 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Focal Dermal Hypoplasia | Aniridia, Anophthalmia, Microphthalmia | OMIM:305600 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Microphthalmia | OMIM:612474 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Neuroocular Syndrome 1 | Hypoplasia of the fovea, Lens coloboma, Microphthalmia | OMIM:619539 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Fraser Syndrome | Anophthalmia, Microphthalmia | ORPHA:2052 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Charge Syndrome | Unilateral microphthalmos, Anophthalmia, Microphthalmia | OMIM:214800 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Norrie Disease | Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia | ORPHA:649 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Microphthalmia, Syndromic 6 | Anophthalmia, Microphthalmia | 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 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Branchiooculofacial Syndrome | Anophthalmia, Microphthalmia | OMIM:113620 | |
Mowat-Wilson Syndrome | Microphthalmia | OMIM:235730 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
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 | Anophthalmia, Microphthalmia | OMIM:164210 | |
Microphthalmia, Syndromic 1 | Anophthalmia, Microphthalmia | OMIM:309800 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Prcptm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Prcpem1(IMPC)Mbp | Exon Deletion | Mice, Tissue |
Prcptm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Prcptm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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