banner
Genes Phenotypes Help, News, Blog

Gene: C1qtnf12 MGI:1914639

Log in to follow

Gene Summary

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

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
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Lateral Orientation

20 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

44 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

48 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images

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
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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter