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Gene: Klhl20 MGI:2444855

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
kelch-like 20
Synonyms:
D930050H05Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Klhl20 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 Klhl20 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
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Dermoids Of Cornea
Corneal opacity OMIM:304730
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Morquio Syndrome C
Corneal opacity OMIM:252300
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Winchester Syndrome
Corneal opacity OMIM:277950
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu... OMIM:278730
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis OMIM:617388
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag... OMIM:175780
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Kid Syndrome
Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio... ORPHA:477
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... OMIM:615145
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology ORPHA:87876
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity OMIM:613153
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... OMIM:618175
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Corneal scarring, Pigmentary retinopat... ORPHA:404454
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma OMIM:256540
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Hypertrophic cardiomyopathy ORPHA:496790
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Sialidosis Type 1
Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity ORPHA:812
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... ORPHA:899
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity ORPHA:309288
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cataract, Retinal arteriolar tortuosity, Optic atrophy, Posterior em... ORPHA:567
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity ORPHA:93399
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Lcat Deficiency
Corneal opacity ORPHA:650
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Ocular Cystinosis
Corneal crystals ORPHA:411641
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:585
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Hepatic Lipase Deficiency
Corneal arcus, Angina pectoris OMIM:614025
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Cystinosis
Retinopathy, Corneal opacity, Portal hypertension ORPHA:213
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... OMIM:256800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity OMIM:607015
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... ORPHA:1764
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Red eye,... ORPHA:209959
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... ORPHA:912
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Wagro Syndrome
Aniridia, Hypertension, Cataract, Corneal opacity OMIM:612469
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal... OMIM:308205
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re... OMIM:252600
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Optic atrophy, R... ORPHA:354
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Optic nerve hypoplasia, Abnormal left ventricular function, Astigmatism, Pulmoni... OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... OMIM:236670
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Telangiectasia ... ORPHA:464
Farber Disease
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... ORPHA:333
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... OMIM:300952
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro... ORPHA:1830
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopigmentation ORPHA:2719
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma OMIM:253010
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Opacification of the... OMIM:607014
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pe... OMIM:612582
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Fucosidosis
Corneal opacity ORPHA:349
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
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
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Mucopolysaccharidosis Type 1
Corneal opacity, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy ORPHA:579
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Hurler Syndrome
Corneal opacity, Angina pectoris, Cardiomyopathy, Hypertension, Retinopathy ORPHA:93473
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... OMIM:309801
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Chorioretina... ORPHA:2092
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Cataract, Sclerocornea OMIM:614230
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... ORPHA:79280
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
3Mc Syndrome 3
Corneal opacity OMIM:248340
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp... ORPHA:2556
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Hypermyelinated retinal nerve fibers OMIM:601812
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Optic atrophy, Atrioventricular block, Pigmentary retinopathy, Reduced... ORPHA:581
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Astigmatism, Aortic... ORPHA:464311
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... OMIM:253200
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
De Barsy Syndrome
Cataract, Corneal opacity, Abnormal fundus fluorescein angiography ORPHA:2962
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Retinopathy, Iris coloboma ORPHA:2396
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Mitral regurgitation, Astigma... ORPHA:309282
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor... OMIM:242900
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Fryns Syndrome
Corneal opacity ORPHA:2059
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Pulmonic stenosis ORPHA:488632
Oculoectodermal Syndrome
Transient ischemic attack, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the ... OMIM:600268
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:580
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Aor... ORPHA:536471
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Corneal opacity, Astigmatism, Aortic valve stenosis ORPHA:464306
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217085
Moebius Syndrome
Corneal opacity ORPHA:570
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Nasolacrimal duct obstruc... ORPHA:141099
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217093
Carpenter Syndrome 1
Microcornea, Optic atrophy, Pulmonic stenosis, Opacification of the corneal stroma OMIM:201000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Tangier Disease
Corneal opacity ORPHA:31150
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Chime Syndrome
Corneal opacity, Retinal coloboma ORPHA:3474
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Cataract, Brushfield spots, Optic nerve dysplasia,... OMIM:614866
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Hypertension, Chorioretinal colob... ORPHA:636
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea OMIM:206900
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Optic atrophy, Tela... ORPHA:910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... OMIM:253280
Gaucher Disease
Corneal opacity, Pulmonary arterial hypertension, Cherry red spot of the macula, Retinopathy, Abn... ORPHA:355
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy... ORPHA:564
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
Larsen Syndrome
Corneal opacity OMIM:150250
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... ORPHA:740
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea OMIM:619869
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... ORPHA:90348
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Optic atrophy, Opacification of the corneal stroma OMIM:251300
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension ORPHA:2072
Peters Plus Syndrome
Cataract, Corneal opacity, Optic atrophy, Microcornea, Pulmonic stenosis, Peters anomaly, Iris co... ORPHA:709
Wolf-Hirschhorn Syndrome
Sclerocornea, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma ORPHA:280
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Sudden cardiac death, Myocardial infarction, Retinal arte... ORPHA:904
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Cockayne Syndrome B
Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Pigment... OMIM:133540
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral... OMIM:252500
Cockayne Syndrome A
Cataract, Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Hypertension, Pigm... OMIM:216400
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Smith-Lemli-Opitz Syndrome
Cataract, Optic atrophy, Iris coloboma, Sclerocornea ORPHA:818
Osteogenesis Imperfecta
Aortic regurgitation, Corneal opacity, Cerebral hemorrhage ORPHA:666
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma OMIM:615287
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Wiedemann-Rautenstrauch Syndrome
Cataract, Optic disc hypoplasia, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Pulmonic... ORPHA:3455
Yunis-Varon Syndrome
Cataract, Sclerocornea, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arteri... ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Microphthalmia, Syndromic 6
Microcornea, Retinal dystrophy, Sclerocornea OMIM:607932
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Yunis-Varon Syndrome
Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension 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 Klhl20

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 Klhl20.

No publications found that use IMPC mice or data for Klhl20.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Klhl20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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