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Gene: Ctbp2 MGI:1201686

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Gene Summary

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

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
edema Ctbp2em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Ctbp2em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo turning Ctbp2em1(IMPC)Bay HOM E9.5 0.00
abnormal pericardium morphology Ctbp2em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Ctbp2em1(IMPC)Bay HOM E9.5 0.00
corneal opacity Ctbp2em1(IMPC)Bay HET Early adult 7.09×10-05
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

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

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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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 dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
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
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Galactosialidosis
Corneal opacity ORPHA:351
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Cataract 47
Cataract, Microcornea OMIM:612018
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal dystrophy, Corneal guttata OMIM:609141
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Congenital Primary Aphakia
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Winchester Syndrome
Corneal opacity OMIM:277950
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
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon ORPHA:1473
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Ocular Cystinosis
Corneal crystals ORPHA:411641
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Fish-Eye Disease
Corneal opacity ORPHA:79292
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism OMIM:152950
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... ORPHA:137596
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Scheie Syndrome
Corneal opacity OMIM:607016
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Sialidosis Type 2
Corneal opacity ORPHA:87876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea OMIM:615145
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea ORPHA:1806
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Sclerocornea, Microcornea ORPHA:139471
Lcat Deficiency
Corneal opacity ORPHA:650
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... OMIM:256800
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Zellweger Syndrome
Brushfield spots, Cataract, Corneal opacity, Posterior embryotoxon ORPHA:912
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:899
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Scheie Syndrome
Corneal opacity ORPHA:93474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... OMIM:212093
Cystinosis
Corneal opacity ORPHA:213
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Familial Dysautonomia
Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion ORPHA:1764
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Aniridia, Cataract ORPHA:251038
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism ORPHA:2719
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac... OMIM:612582
Stromme Syndrome
Microcornea, Iris coloboma, Peters anomaly, Cataract, Sclerocornea OMIM:243605
Farber Disease
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma ORPHA:333
Fucosidosis
Corneal opacity ORPHA:349
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Focal Dermal Hypoplasia
Hypoplasia of the iris, Iris coloboma, Corneal opacity, Ectopia lentis ORPHA:2092
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Corneal stromal edema OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
3Mc Syndrome 3
Corneal opacity OMIM:248340
Fryns Syndrome
Corneal opacity ORPHA:2059
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Iris coloboma, Megalocornea, Corneal opacity ORPHA:536471
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Alpha-Mannosidosis, Infantile Form
Astigmatism, Cataract, Corneal opacity ORPHA:309282
Mucopolysaccharidosis Type 3
Corneal opacity, Cataract, Opacification of the corneal stroma ORPHA:581
Mucoepithelial Dysplasia, Hereditary
Opacification of the corneal stroma, Cataract, Corneal neovascularization, Keratoconjunctivitis OMIM:158310
Hurler Syndrome
Corneal opacity ORPHA:93473
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... OMIM:175780
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Moebius Syndrome
Corneal opacity ORPHA:570
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea OMIM:201000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Fabry Disease
Corneal dystrophy, Conjunctival telangiectasia, Corneal opacity, Cataract ORPHA:324
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Peters anomaly, Sclerocornea, Cataract OMIM:309801
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Keratoconjunctivitis sicca, Corneal opacity ORPHA:495875
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Lentiglobus, Buphthalmos, Cataract, Corneal opacity ORPHA:534
Norrie Disease
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Ectopia lentis, Ca... ORPHA:649
Phace Syndrome
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea ORPHA:42775
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Tangier Disease
Corneal opacity ORPHA:31150
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Posterior embryotoxon, Sclerocornea ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214100
Larsen Syndrome
Corneal opacity OMIM:150250
Proboscis Lateralis
Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:141099
Chime Syndrome
Corneal opacity ORPHA:3474
Oculoectodermal Syndrome
Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Microcornea OMIM:600268
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Neurofibromatosis Type 1
Cataract, Heterochromia iridis, Corneal opacity, Lisch nodules ORPHA:636
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Opacification of the corneal stroma, Cataract OMIM:251300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Conjunctivitis, Corneal erosion, Astigmatism, Corneal opacity, Keratitis ORPHA:2273
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea, Microcornea ORPHA:564
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Peters Plus Syndrome
Anterior chamber synechiae, Microcornea, Iris coloboma, Peters anomaly, Cataract, Corneal opacity ORPHA:709
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Mucopolysaccharidosis Type 2
Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Williams Syndrome
Megalocornea, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Cataract, Blue irides, Corne... ORPHA:904
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Smith-Lemli-Opitz Syndrome
Iris coloboma, Sclerocornea, Cataract ORPHA:818
Wolf-Hirschhorn Syndrome
Iris coloboma, Megalocornea, Sclerocornea ORPHA:280
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Xeroderma Pigmentosum
Pterygium, Cataract, Conjunctival telangiectasia, Keratitis, Opacification of the corneal stroma ORPHA:910
Gaucher Disease
Corneal opacity ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity ORPHA:2072
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Bartsocas-Papas Syndrome 1
Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Megalocornea OMIM:252500
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Fraser Syndrome 1
Corneal opacity OMIM:219000
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Cockayne Syndrome B
Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract, Microcornea OMIM:133540
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma OMIM:253280
Cockayne Syndrome A
Opacification of the corneal stroma, Cataract OMIM:216400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract, Corneal opacity OMIM:268300
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Microphthalmia, Syndromic 6
Sclerocornea, Microcornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal neovasculariz... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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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