Gene Summary

Name:
WD repeat, SAM and U-box domain containing 1
Synonyms:
1700048E19Rik,  2610014F08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 4.63×10-14
cataract Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 7.16×10-07
abnormal lens morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.48×10-07
decreased startle reflex Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 2.01×10-05
abnormal retinal blood vessel morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 8.07×10-07
preweaning lethality, incomplete penetrance Wdsub1tm1b(EUCOMM)Wtsi HOM   Early adult 0.000497
abnormal vitreous body morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.25×10-11

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Wdsub1 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 Wdsub1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Aniridia 3
Cataract OMIM:617142
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Shallow anterior chamber, Tractional retinal detach... OMIM:613310
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Trichomegaly
Cataract OMIM:190330
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Galactosemia Ii
Cataract OMIM:230200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy OMIM:204200
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Retinal detac... OMIM:300476
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Nathalie Syndrome
Cataract OMIM:255990
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cataract 47
Cataract, Microcornea OMIM:612018
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Vitreoretinopathy, Retinal detachment ORPHA:250984
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cataract 11, Multiple Types
Cataract OMIM:610623
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract, Choroideremia OMIM:116600
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Astigmatism, Bone spicule p... OMIM:615986
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Cataract, Retinopathy, Macular dystrophy ORPHA:225
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Microcor... OMIM:152950
Peroxisome Biogenesis Disorder 8B
Cataract, Optic atrophy, Retinal dystrophy OMIM:614877
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Proximal Myotonic Myopathy
Cataract ORPHA:606
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Aniridia 2
Cataract, Aniridia OMIM:617141
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Intention tremor ORPHA:284289
Alg8-Cdg
Cataract ORPHA:79325
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment OMIM:615181
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Congenital Varicella Syndrome
Cataract ORPHA:291
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Pellagra-Like Syndrome
Cataract OMIM:260650
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Cataract, Abnormal cornea morphology, Retinopathy ORPHA:2611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment OMIM:613153
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Optic atrophy ORPHA:272
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Antiphospholipid Syndrome, Familial
Iritis, Central retinal artery occlusion, Retinal vasculitis, Keratitis, Retinal detachment, Vitr... OMIM:107320
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Neonatal Adrenoleukodystrophy
Cataract, Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Refsum Disease, Classic
Cataract, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cataract, Optic atrophy, Bone spicu... OMIM:609033
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Sclerocornea ORPHA:139471
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cataract 43
Subcapsular cataract OMIM:616279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Macular co... OMIM:619260
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea ORPHA:2791
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Cataract, Truncal titubation, Bone spicule pigmentation of the retina, Ro... ORPHA:88628
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Retinal dystrophy OMIM:610125
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal dysplasia, Cataract, Exaggerated startle response, Retinal detachment, Optic atrophy OMIM:253800
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:2715
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Spondyloocular Syndrome
Cataract, Retinal detachment OMIM:605822
Multiple Sulfatase Deficiency
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Corneal opacity ORPHA:585
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Knobloch Syndrome
Abnormal vitreous humor morphology, Ectopia lentis, Cataract, Vitreoretinopathy, Retinal detachme... ORPHA:1571
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Usher Syndrome
Cataract, Astigmatism, Abnormality of retinal pigmentation, Vestibular areflexia ORPHA:886
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical ca... ORPHA:67036
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormality of t... ORPHA:637
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy OMIM:610651
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy OMIM:617913
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Cataract, Optic atrophy, Resting tremor ORPHA:314404
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Optic nerve hypoplasia, Sclerocornea, Retin... OMIM:243605
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Congenital Tufting Enteropathy
Optic disc coloboma, Cataract, Punctate keratitis, Corneal erosion ORPHA:92050
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Retinal degeneration, Retinal dysplasia, Cataract, Megalocornea, Op... OMIM:253280
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Cataract, Iris atrophy, Absent anterior chamber of the eye OMIM:259770
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Sclerocorne... ORPHA:42775
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Blau Syndrome
Cataract, Band keratopathy, Cystoid macular edema, Iritis OMIM:186580
Tay-Sachs Disease
Tremor, Optic atrophy, Cherry red spot of the macula, Exaggerated startle response ORPHA:845
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Microphthalmia, Syndromic 2
Developmental cataract, Remnants of the hyaloid vascular system, Iris coloboma, Microcornea, Reti... OMIM:300166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Optic disc pallor ORPHA:438213

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 Wdsub1

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 Wdsub1.

No publications found that use IMPC mice or data for Wdsub1.

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MGI Allele Allele Type Produced
Wdsub1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Wdsub1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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