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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
anophthalmia | C1qtnf12em1(IMPC)Mbp | HOM | Early adult | 0.00 | ||
microphthalmia | C1qtnf12em1(IMPC)Mbp | HOM | Early adult | 0.00 | ||
enlarged seminal vesicle | C1qtnf12em1(IMPC)Mbp | HOM | Late adult | 0.00 | ||
abnormal eye morphology | C1qtnf12em1(IMPC)Mbp | HOM | Early adult | 0.00 | ||
absent seminal vesicle | C1qtnf12em1(IMPC)Mbp | HOM | Late adult | 0.00 |
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 C1qtnf12 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome | Microphthalmia, Anophthalmia | ORPHA:85275 | |
Nanophthalmos 1 | Bilateral microphthalmos | OMIM:600165 | |
Microphthalmia, Isolated 7 | Microphthalmia | OMIM:613704 | |
Nanophthalmos 2 | Microphthalmia | OMIM:609549 | |
Microphthalmia, Isolated 1 | Microphthalmia, Anophthalmia | OMIM:251600 | |
Microphthalmia, Isolated, With Coloboma 10 | Microphthalmia, Anophthalmia | OMIM:616428 | |
Microphthalmia, Isolated, With Coloboma 5 | Microphthalmia, Anophthalmia, Bilateral microphthalmos | OMIM:611638 | |
Microphthalmia, Syndromic 16 | Microphthalmia, Anophthalmia | OMIM:611038 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
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 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 | |
Fryns Microphthalmia Syndrome | Microphthalmia, Anophthalmia | OMIM:600776 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Microphthalmia, Isolated, With Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microphthalmia, Isolated 8 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia | OMIM:615113 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Anencephaly 2 | Anophthalmia | OMIM:619452 | |
Microphthalmia, Syndromic 12 | Microphthalmia, Anophthalmia | OMIM:615524 | |
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 | |
Oculocerebrocutaneous Syndrome | Microphthalmia, Anophthalmia | OMIM:164180 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Facial Clefting, Oblique, 1 | Microphthalmia | OMIM:600251 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Meckel Syndrome, Type 8 | Microphthalmia, Anophthalmia | OMIM:613885 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development | Microphthalmia | OMIM:120433 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | ORPHA:2717 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome | Anophthalmia | ORPHA:411986 | |
Adams-Oliver Syndrome 4 | Microphthalmia | OMIM:615297 | |
Craniotelencephalic Dysplasia | Microphthalmia, Optic nerve hypoplasia | OMIM:218670 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Microphthalmia, Syndromic 5 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610125 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Anophthalmia Plus Syndrome | Anophthalmia | ORPHA:1104 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Craniotelencephalic Dysplasia | Microphthalmia, Septo-optic dysplasia | ORPHA:1528 | |
Solitary Median Maxillary Central Incisor | Microphthalmia, Anophthalmia | OMIM:147250 | |
Microphthalmia With Brain And Digit Anomalies | Microphthalmia, Anophthalmia | ORPHA:139471 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:3378 | |
Hydrolethalus | Microphthalmia, Anophthalmia | ORPHA:2189 | |
Manitoba Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | OMIM:248450 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Microphthalmia, Anophthalmia | ORPHA:77298 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Cerebrooculonasal Syndrome | Anophthalmia | ORPHA:66625 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Matthew-Wood Syndrome | Microphthalmia, Anophthalmia | ORPHA:2470 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Microphthalmia With Limb Anomalies | Microphthalmia, Anophthalmia | OMIM:206920 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Deafness, X-Linked 7 | Unilateral microphthalmos | OMIM:301018 | |
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 | |
Cockayne Syndrome Type 2 | Anophthalmia | ORPHA:90322 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Walker-Warburg Syndrome | Microphthalmia, Anophthalmia | ORPHA:899 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Trisomy 1Q | Anophthalmia | ORPHA:261344 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Microphthalmia, Optic nerve hypoplasia | OMIM:615181 | |
Cornea Plana 2, Autosomal Recessive | Microphthalmia | OMIM:217300 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 | Microphthalmia | OMIM:613155 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Microphthalmia, Anophthalmia | OMIM:615877 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Microphthalmia | OMIM:613730 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Autosomal Dominant Keratitis | Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... | ORPHA:2334 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Anterior Segment Dysgenesis 2 | Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia | OMIM:610256 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Linear Skin Defects With Multiple Congenital Anomalies 2 | Microphthalmia | OMIM:300887 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Buphthalmos, Microphthalmia | OMIM:212550 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Microphthalmia, Optic nerve hypoplasia | OMIM:614833 | |
Microphthalmia, Syndromic 3 | Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia | OMIM:206900 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Microphthalmia, Anophthalmia | ORPHA:2250 | |
Vacterl With Hydrocephalus | Microphthalmia, Anophthalmia | ORPHA:3412 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Congenital Rubella Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:290 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Cockayne Syndrome Type 1 | Anophthalmia | ORPHA:90321 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome | Aniridia, Anophthalmia | ORPHA:1101 | |
Osteopetrosis, Autosomal Recessive 8 | Unilateral microphthalmos | OMIM:615085 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Spondylo-Ocular Syndrome | Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:85194 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Bresek Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:85284 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Fibular Hemimelia | Anophthalmia | ORPHA:93323 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Cerebrooculonasal Syndrome | Anophthalmia, Optic nerve hypoplasia | OMIM:605627 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Microphthalmia, Abnormally large globe | OMIM:615249 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Coloboma, Ocular, Autosomal Dominant | Microphthalmia, Optic nerve aplasia | OMIM:120200 | |
Holoprosencephaly | Microphthalmia, Anophthalmia | ORPHA:2162 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
14Q22Q23 Microdeletion Syndrome | Optic nerve aplasia, Anophthalmia | ORPHA:264200 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Holoprosencephaly 9 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610829 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development | Microphthalmia | OMIM:152950 | |
Microgastria-Limb Reduction Defect Syndrome | Microphthalmia, Anophthalmia | ORPHA:2538 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Microphthalmia, Lens coloboma | OMIM:618914 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Temtamy Syndrome | Microphthalmia | OMIM:218340 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Bilateral microphthalmos, Optic nerve hypoplasia | OMIM:607597 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:564 | |
Microcephaly 20, Primary, Autosomal Recessive | Microphthalmia, Optic nerve hypoplasia | OMIM:617914 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Microphthalmia, Anophthalmia | ORPHA:2526 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
Otodental Syndrome | Microphthalmia, Lens coloboma | ORPHA:2791 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Microphthalmia, Optic nerve hypoplasia | ORPHA:370959 | |
Fanconi Anemia, Complementation Group R | Microphthalmia | OMIM:617244 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Buphthalmos | OMIM:310600 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies | Microphthalmia | OMIM:618494 | |
Joubert Syndrome 21 | Anophthalmia | OMIM:615636 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:2399 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Fanconi Anemia, Complementation Group I | Microphthalmia, Optic nerve hypoplasia | OMIM:609053 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Proboscis Lateralis | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | ORPHA:141099 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Microphthalmia With Linear Skin Defects Syndrome | Microphthalmia, Anophthalmia | ORPHA:2556 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Microphthalmia, Syndromic 2 | Microphthalmia, Phthisis bulbi, Anophthalmia | OMIM:300166 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Charge Syndrome | Microphthalmia, Anophthalmia | ORPHA:138 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Tetraamelia-Multiple Malformations Syndrome | Microphthalmia, Septo-optic dysplasia | ORPHA:3301 | |
Persistent Hyperplastic Primary Vitreous | Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia | ORPHA:91495 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome | Microphthalmia | OMIM:241410 | |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies | Microphthalmia | OMIM:620098 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Microphthalmia, Phthisis bulbi | OMIM:221900 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Microphthalmia With Limb Anomalies | Microphthalmia, True anophthalmia | ORPHA:1106 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Focal Dermal Hypoplasia | Aniridia, Microphthalmia, Anophthalmia | OMIM:305600 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | OMIM:616449 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Fraser Syndrome | Microphthalmia, Anophthalmia | ORPHA:2052 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Phace Association | Microphthalmia, Optic nerve hypoplasia | OMIM:606519 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Linear Skin Defects With Multiple Congenital Anomalies 3 | Microphthalmia | OMIM:300952 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Charge Syndrome | Microphthalmia, Anophthalmia, Unilateral microphthalmos | OMIM:214800 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Frontonasal Dysplasia 2 | Microphthalmia | OMIM:613451 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
Microphthalmia, Syndromic 6 | Microphthalmia, Anophthalmia | OMIM:607932 | |
Oculoauricular Syndrome | Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia | OMIM:612109 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Microphthalmia, Optic nerve hypoplasia | OMIM:614643 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Stromme Syndrome | Microphthalmia, Optic nerve hypoplasia | OMIM:243605 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Pierson Syndrome | Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... | OMIM:609049 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Duane-Radial Ray Syndrome | Microphthalmia, Optic disc hypoplasia | OMIM:607323 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Branchiooculofacial Syndrome | Microphthalmia, Anophthalmia | OMIM:113620 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Microphthalmia, Optic nerve hypoplasia | OMIM:236670 | |
Ohdo Syndrome, X-Linked | Microphthalmia | OMIM:300895 | |
Lymphedema-Distichiasis Syndrome | Microphthalmia | OMIM:153400 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Premature Aging Syndrome, Penttinen Type | Microphthalmia | OMIM:601812 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Atelis Syndrome 2 | Microphthalmia | OMIM:620185 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Jacobsen Syndrome | Microphthalmia, Macular hypoplasia | OMIM:147791 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Acro-Renal-Ocular Syndrome | Microphthalmia, Optic disc hypoplasia | ORPHA:959 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Fraser Syndrome 2 | Microphthalmia | OMIM:617666 | |
Histiocytoid Cardiomyopathy | Microphthalmia, Congenital aphakia | ORPHA:137675 | |
Basal Cell Nevus Syndrome 1 | Microphthalmia | OMIM:109400 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Phace Syndrome | Microphthalmia, Lens coloboma, Optic nerve hypoplasia | ORPHA:42775 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:508498 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
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 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia, Phthisis bulbi | OMIM:259770 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Craniofacial Microsomia 1 | Microphthalmia, Anophthalmia | OMIM:164210 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Microphthalmia, Syndromic 1 | Microphthalmia, Anophthalmia | OMIM:309800 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
Holoprosencephaly 7 | Microphthalmia, Bilateral microphthalmos | OMIM:610828 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Buphthalmos, Microphthalmia, Hypoplasia of the retina | OMIM:253280 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:468631 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Microphthalmia | OMIM:620186 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:3472 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Neuroocular Syndrome | Hypoplasia of the fovea, Microphthalmia, Lens coloboma | OMIM:619539 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Microphthalmia | OMIM:612474 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:649 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
8Q24.3 Microdeletion Syndrome | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:508488 | |
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 |
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 C1qtnf12
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MGI Allele | Allele Type | Produced |
---|---|---|
C1qtnf12tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
C1qtnf12em1(IMPC)Mbp | Inter-exon deletion | Mice, Tissue |
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