Gene Summary

Name:
C-terminal binding protein 2
Synonyms:
Gtrgeo6,  D7Ertd45e,  Ribeye

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Ctbp2em1(IMPC)Bay HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Ctbp2em1(IMPC)Bay HOM   E15.5 0.00
abnormal somite shape Ctbp2em1(IMPC)Bay HOM E9.5 0.00
edema Ctbp2em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Ctbp2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Ctbp2em1(IMPC)Bay HOM E9.5 0.00
abnormal pericardium morphology Ctbp2em1(IMPC)Bay HOM E9.5 0.00
corneal opacity Ctbp2em1(IMPC)Bay HET Early adult 7.39×10-05

Download data as:  TSV  XLS

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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.

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

Human diseases caused by Ctbp2 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 Ctbp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Galactosialidosis
Corneal opacity ORPHA:351
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Cataract 47
Cataract, Microcornea OMIM:612018
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Ocular Cystinosis
Corneal crystals ORPHA:411641
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Fish-Eye Disease
Corneal opacity ORPHA:79292
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Scheie Syndrome
Corneal opacity OMIM:607016
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Sialidosis Type 2
Corneal opacity ORPHA:87876
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Alpha-Mannosidosis
Corneal opacity, Cataract ORPHA:61
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Lcat Deficiency
Corneal opacity ORPHA:650
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydrops fetalis, Mitral valve prola... OMIM:212093
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Atrial septal defect, Nonimmune hydrops fetalis, Polyhy... OMIM:616843
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Zellweger Syndrome
Corneal opacity, Cataract, Brushfield spots, Posterior embryotoxon ORPHA:912
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract ORPHA:309288
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Scheie Syndrome
Corneal opacity ORPHA:93474
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Multiple Sulfatase Deficiency
Corneal opacity, Cataract ORPHA:585
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Astigmatism OMIM:301056
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cystinosis
Corneal opacity ORPHA:213
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Sanjad-Sakati Syndrome
Corneal opacity, Astigmatism ORPHA:2323
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism ORPHA:2719
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... OMIM:612582
Fucosidosis
Corneal opacity ORPHA:349
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Focal Dermal Hypoplasia
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract OMIM:158310
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Incontinentia Pigmenti
Keratitis, Corneal opacity, Cataract ORPHA:464
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Fryns Syndrome
Corneal opacity ORPHA:2059
3Mc Syndrome 3
Corneal opacity OMIM:248340
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
De Barsy Syndrome
Corneal opacity, Cataract ORPHA:2962
Mucopolysaccharidosis Type 3
Corneal opacity, Opacification of the corneal stroma, Cataract ORPHA:581
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Hurler Syndrome
Corneal opacity ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Cataract, Astigmatism ORPHA:309282
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Megalocornea, Posterior subcapsular cataract, Iris coloboma ORPHA:536471
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Astigmatism ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Astigmatism ORPHA:464306
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Moebius Syndrome
Corneal opacity ORPHA:570
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Astigmatism OMIM:242900
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract ORPHA:1052
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Oculoectodermal Syndrome
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism OMIM:600268
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Corneal dystrophy ORPHA:495875
Linear Skin Defects With Multiple Congenital Anomalies 1
Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus ORPHA:534
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Cataract OMIM:274000
Larsen Syndrome
Corneal opacity OMIM:150250
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Lathosterolosis
Opacification of the corneal stroma, Cataract, Microcornea ORPHA:46059
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Posterior embryotoxon, Sclerocornea ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214100
Tangier Disease
Corneal opacity ORPHA:31150
Proboscis Lateralis
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:141099
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Chime Syndrome
Corneal opacity ORPHA:3474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Astigmatism, Corneal erosion, Conjunctivitis ORPHA:2273
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Sclerocornea ORPHA:564
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis ORPHA:2908
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Hypoplasia of the iris, Cataract OMIM:251300
Neurofibromatosis Type 1
Lisch nodules, Corneal opacity, Cataract, Heterochromia iridis ORPHA:636
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Peters Plus Syndrome
Corneal opacity, Anterior chamber synechiae, Microcornea, Peters anomaly, Iris coloboma, Cataract ORPHA:709
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Iris coloboma ORPHA:2369
Williams Syndrome
Flat cornea, Corneal opacity, Blue irides, Megalocornea, Posterior embryotoxon, Cataract, Aplasia... ORPHA:904
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Wolf-Hirschhorn Syndrome
Iris coloboma, Megalocornea, Sclerocornea ORPHA:280
Gaucher Disease
Corneal opacity ORPHA:355
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Smith-Lemli-Opitz Syndrome
Iris coloboma, Cataract, Sclerocornea ORPHA:818
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Xeroderma Pigmentosum
Keratitis, Conjunctival telangiectasia, Opacification of the corneal stroma, Cataract, Pterygium ORPHA:910
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Bartsocas-Papas Syndrome 1
Corneal ulceration, Opacification of the corneal stroma, Popliteal pterygium, Axillary pterygium,... OMIM:263650
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Cockayne Syndrome B
Developmental cataract, Opacification of the corneal stroma, Microcornea, Hypoplasia of the iris OMIM:133540
Fraser Syndrome 1
Corneal opacity OMIM:219000
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Wiedemann-Rautenstrauch Syndrome
Corneal opacity, Cataract ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Opacification of the corneal stroma, Megalocornea, Cataract OMIM:253280
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract OMIM:216400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract OMIM:268300

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 Ctbp2

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 Ctbp2.

No publications found that use IMPC mice or data for Ctbp2.

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MGI Allele Allele Type Produced
Ctbp2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctbp2em1(IMPC)Bay Exon Deletion Mice
Ctbp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctbp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctbp2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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