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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
preweaning lethality, complete penetrance Ctbp2em1(IMPC)Bay HOM   Early adult 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
decreased exploration in new environment Ctbp2em1(IMPC)Bay HET Early adult 5.54×10-05
corneal opacity Ctbp2em1(IMPC)Bay HET Early adult 7.09×10-05
abnormal somite shape Ctbp2em1(IMPC)Bay HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Ctbp2em1(IMPC)Bay HOM   E15.5 0.00
edema Ctbp2em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

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
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
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
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment ORPHA:1532
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Attention deficit hypera... OMIM:152950
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Confusion, Depression ORPHA:309288
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Fish-Eye Disease
Corneal opacity ORPHA:79292
Sialidosis Type 2
Corneal opacity ORPHA:87876
Scheie Syndrome
Corneal opacity OMIM:607016
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Ocular Cystinosis
Corneal crystals ORPHA:411641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Emo... OMIM:256800
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Wagro Syndrome
Cataract, Corneal opacity, Low frustration tolerance, Aniridia, Emotional lability OMIM:612469
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, Cognitive impairment, Posterior embryotoxon ORPHA:912
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Lcat Deficiency
Corneal opacity ORPHA:650
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Opacification of the corneal stroma, Depression OMIM:601853
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Corneal opacity OMIM:272200
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity OMIM:301056
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Scheie Syndrome
Corneal opacity ORPHA:93474
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Gm1 Gangliosidosis
Corneal opacity, Cognitive impairment ORPHA:354
Cystinosis
Corneal opacity ORPHA:213
Mucopolysaccharidosis Type 4
Corneal opacity, Cognitive impairment ORPHA:582
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Wilson Disease
Kayser-Fleischer ring, Depression ORPHA:905
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:607014
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:2719
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Cognitive impairment, Iris coloboma ORPHA:2092
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis, Attention deficit hyperactivity disorder, Cognitive impairment ORPHA:464
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Alpha-Mannosidosis, Infantile Form
Short attention span, Cataract, Corneal opacity, Confusion, Depression, Astigmatism ORPHA:309282
Fucosidosis
Corneal opacity ORPHA:349
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Dyggve-Melchior-Clausen Disease
Diminished ability to concentrate, Corneal opacity ORPHA:239
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Mucopolysaccharidosis Type 6
Cognitive impairment, Opacification of the corneal stroma ORPHA:583
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Cognitive impairment ORPHA:488632
Hurler Syndrome
Corneal opacity, Depression ORPHA:93473
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Progressive neurologic deterioration, Dementia, Opacification of the c... ORPHA:581
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Depression, Cognitive ... ORPHA:324
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity, Attention deficit hyperactivity disorder ORPHA:464311
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Fryns Syndrome
Corneal opacity ORPHA:2059
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
3Mc Syndrome 3
Corneal opacity OMIM:248340
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca, Attention deficit hy... ORPHA:495875
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Depression, Buphthalmos, Lentiglobus, Atten... ORPHA:534
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Mucopolysaccharidosis Type 2
Short attention span, Corneal opacity, Progressive neurologic deterioration, Cognitive impairment... ORPHA:580
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Moebius Syndrome
Corneal opacity ORPHA:570
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Neurofibromatosis Type 1
Cataract, Corneal opacity, Attention deficit hyperactivity disorder, Lisch nodules, Memory impair... ORPHA:636
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Mucopolysaccharidosis Type 2, Attenuated Form
Mental deterioration, Short attention span, Corneal opacity, Cognitive impairment ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... ORPHA:2273
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Mucopolysaccharidosis Type 2, Severe Form
Mental deterioration, Corneal opacity, Cognitive impairment ORPHA:217085
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Tangier Disease
Corneal opacity ORPHA:31150
Larsen Syndrome
Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214100
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Cognitive ... ORPHA:910
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Chime Syndrome
Corneal opacity ORPHA:3474
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Wilson Disease
Kayser-Fleischer ring, Dementia OMIM:277900
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Gaucher Disease
Corneal opacity, Depression ORPHA:355
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Blue irides, Depression, Aplasia/Hypoplasia of the iris, ... ORPHA:904
Smith-Lemli-Opitz Syndrome
Attention deficit hyperactivity disorder, Cataract, Iris coloboma, Sclerocornea ORPHA:818
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:614866
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
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
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Fraser Syndrome 1
Corneal opacity OMIM:219000
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Confusion ORPHA:3455
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract OMIM:133540
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma, Dementia OMIM:216400
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Digeorge Syndrome
Attention deficit hyperactivity disorder, Posterior embryotoxon, Sclerocornea OMIM:188400
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Irritability, 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.

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
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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