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Gene: C1qtnf12 MGI:1914639

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Gene Summary

Name:
C1q and tumor necrosis factor related 12
Synonyms:
Fam132a,  1110035L05Rik,  C1qdc2,  alipolin,  adipolin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia C1qtnf12em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia C1qtnf12em1(IMPC)Mbp HOM Early 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
enlarged seminal vesicle C1qtnf12em1(IMPC)Mbp HOM Late adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

44 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Human diseases caused by C1qtnf12 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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
Anophthalmia, Microphthalmia ORPHA:85275
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
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, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Nanophthalmos 4
Microphthalmia OMIM:615972
Nanophthalmos
Microphthalmia ORPHA:35612
Anencephaly 2
Anophthalmia OMIM:619452
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia 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
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
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
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
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
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia 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
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
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
Anophthalmia, Microphthalmia ORPHA:899
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Pierpont Syndrome
Microphthalmia ORPHA:487825
Trisomy 1Q
Anophthalmia ORPHA:261344
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Joubert Syndrome 22
Microphthalmia OMIM:615665
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Lissencephaly 8
Microphthalmia OMIM:617255
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
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
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Seckel Syndrome 2
Microphthalmia OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Rodrigues Blindness
Microphthalmia OMIM:268320
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Fibular Hemimelia
Anophthalmia ORPHA:93323
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Holoprosencephaly
Anophthalmia, Microphthalmia ORPHA:2162
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Joubert Syndrome 37
Microphthalmia OMIM:619185
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Temtamy Syndrome
Microphthalmia OMIM:218340
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
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, Anophthalmia, Microphthalmia ORPHA:564
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Joubert Syndrome 21
Anophthalmia OMIM:615636
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Refsum Disease
Microphthalmia ORPHA:773
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Microphthalmia, Syndromic 2
Phthisis bulbi, Anophthalmia, Microphthalmia OMIM:300166
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
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
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Marden-Walker Syndrome
Microphthalmia OMIM:248700
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Joubert Syndrome 14
Microphthalmia OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Micro Syndrome
Microphthalmia ORPHA:2510
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Isolated Arrhinia
Microphthalmia ORPHA:1134
Frontorhiny
Microphthalmia ORPHA:391474
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Charge Syndrome
Unilateral microphthalmos, Anophthalmia, Microphthalmia OMIM:214800
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Joubert Syndrome 2
Microphthalmia OMIM:608091
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Cohen Syndrome
Microphthalmia ORPHA:193
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Meckel Syndrome 14
Microphthalmia OMIM:619879
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fryns Syndrome
Microphthalmia ORPHA:2059
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Cat Eye Syndrome
Microphthalmia OMIM:115470
Cousin Syndrome
Microphthalmia OMIM:260660
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Trisomy 18
Microphthalmia ORPHA:3380
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Fraser Syndrome 2
Microphthalmia OMIM:617666
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Traboulsi Syndrome
Microphthalmia OMIM:601552
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Mend Syndrome
Microphthalmia ORPHA:401973
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Aicardi Syndrome
Microphthalmia OMIM:304050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Monosomy 9P
Microphthalmia ORPHA:261112
Monosomy 13Q14
Microphthalmia ORPHA:1587
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Myhre Syndrome
Microphthalmia OMIM:139210
Roberts Syndrome
Microphthalmia ORPHA:3103
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Fryns Syndrome
Microphthalmia OMIM:229850
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
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Cockayne Syndrome
Microphthalmia ORPHA:191
22Q11.2 Deletion Syndrome
Microphthalmia ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia OMIM:620186
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Degcags Syndrome
Microphthalmia OMIM:619488
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Microphthalmia OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Holoprosencephaly 1
Microphthalmia OMIM:236100
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, Aplasia/Hypoplasia of the lens, Microphthalmia 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
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for C1qtnf12

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to C1qtnf12.

No publications found that use IMPC mice or data for C1qtnf12.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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