Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
selenoprotein F
Synonyms:
Sep15

IMPC Data Collections

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

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.

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 Selenof 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 Selenof by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
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
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Aniridia 3
Cataract OMIM:617142
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 7
Developmental cataract OMIM:115660
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Trichomegaly
Cataract OMIM:190330
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
X-Linked Retinoschisis
Cataract ORPHA:792
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Hepatomegaly, Cataract OMIM:607906
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Hepatosplenomegaly, Cataract, Abnormal enzyme/coenzyme activity ORPHA:79237
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cataract, Cholestasis, Abnormal enzyme/coenzyme activity ORPHA:570422
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cataract 47
Microcornea, Cataract OMIM:612018
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Nathalie Syndrome
Cataract OMIM:255990
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber ORPHA:280914
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Retinitis Pigmentosa 56
Nuclear cataract, Posterior subcapsular cataract OMIM:613581
Retinitis Pigmentosa 84
Macular coloboma, Cataract OMIM:618220
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Cataract OMIM:614882
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Cataract 11, Multiple Types
Cataract OMIM:610623
Aniridia 2
Aniridia, Cataract OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cahmr Syndrome
Lamellar cataract OMIM:211770
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Jaundice ORPHA:79238
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Mevalonic Aciduria
Nuclear cataract, Fluctuating hepatomegaly, Hepatosplenomegaly, Increased circulating lactate deh... OMIM:610377
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Pellagra-Like Syndrome
Cataract OMIM:260650
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 49
Posterior cortical cataract OMIM:619593
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Congenital Varicella Syndrome
Cataract ORPHA:291
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cholestasis, Cataract, Hepatic fibrosis OMIM:609313
Cataract 43
Subcapsular cataract OMIM:616279
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Retinitis Pigmentosa 4
Cataract OMIM:613731
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Morm Syndrome
Cataract ORPHA:75858
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Iris hypopigmentation, Cataract ORPHA:67048
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract OMIM:608763
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Retinitis Pigmentosa 2
Cataract OMIM:312600
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Retinitis Pigmentosa 9
Cataract OMIM:180104
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Wagner Vitreoretinopathy
Cataract OMIM:143200
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Cataract OMIM:204000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Cataract, Jaundice OMIM:614872
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract OMIM:616171
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract OMIM:613730
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Hereditary Cryohydrocytosis With Reduced Stomatin
Zonular cataract, Hepatosplenomegaly, Cataract, Jaundice ORPHA:168577
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract OMIM:617370
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cataract ORPHA:369840
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Alg2-Cdg
Hepatomegaly, Abnormal enzyme/coenzyme activity, Cataract, Iris coloboma ORPHA:79326
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cataract, Hepatic stea... OMIM:618805
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract OMIM:193220
Achromatopsia 3
Cataract OMIM:262300
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular sys... ORPHA:231736
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Cataract OMIM:615704
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract ORPHA:3156
Peroxisome Biogenesis Disorder 8B
Decreased liver function, Cataract OMIM:614877
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Myopathy, Myofibrillar, 2
Cataract OMIM:608810
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Martsolf Syndrome 2
Developmental cataract, Cataract OMIM:619420
Neurofibromatosis, Type Ii
Cortical cataract, Juvenile posterior subcapsular lenticular opacities OMIM:101000
Cataract 24
Anterior polar cataract OMIM:601202
Phenylketonuria
Blue irides, Reduced phenylalanine hydroxylase level, Cataract OMIM:261600
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cataract, Hepatic steatosis OMIM:606069
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Retinopathy, Pigmentary, And Mental Retardation
Cataract OMIM:268050
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cataract OMIM:618958
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract OMIM:302350
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Joubert Syndrome 9
Astigmatism, Cataract, Hepatic fibrosis OMIM:612285
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Stiff Skin Syndrome
Cataract OMIM:184900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract OMIM:132450
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Cataract, Abnormal enzyme/coenzy... ORPHA:79095
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Cataract, Iris coloboma ORPHA:2377
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Mevalonic Aciduria
Cataract ORPHA:29
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Lissencephaly 8
Cataract OMIM:617255
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Galactosemia I
Cirrhosis, Hepatomegaly, Decreased liver function, Cataract OMIM:230400
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Pseudo-Torch Syndrome 1
Hepatomegaly, Decreased liver function, Cataract, Elevated hepatic transaminase, Opacification of... OMIM:251290
Galactosemia
Hepatomegaly, Cirrhosis, Cataract, Hepatic failure, Abnormal enzyme/coenzyme activity, Elevated h... ORPHA:352
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract ORPHA:250984
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Cataract, Jaundice OMIM:608885
Infantile Spasms-Broad Thumbs Syndrome
Cataract ORPHA:3173
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Monilethrix
Cataract ORPHA:573
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... ORPHA:67036
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Abnormal enzyme/coenzyme activity ORPHA:284289
Srd5A3-Cdg
Elevated hepatic transaminase, Coloboma, Cataract ORPHA:324737
Congenital Rubella Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Jaundice ORPHA:290
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Developmental cataract, Cataract ORPHA:436174
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Rothmund-Thomson Syndrome, Type 2
Microcornea, Cataract, Zonular cataract OMIM:268400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Myh9-Related Disease
Elevated hepatic transaminase, Presenile cataracts ORPHA:182050
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Microcephaly 10, Primary, Autosomal Recessive
Cataract OMIM:615095
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... OMIM:616278
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Cataract ORPHA:414
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cataract, Jaundice OMIM:608093
Nance-Horan Syndrome
Microcornea, Cataract ORPHA:627
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Gli... ORPHA:91495
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea ORPHA:139471
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Cataract, Keratitis OMIM:612843
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline... OMIM:619484
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Otodental Syndrome
Lens coloboma, Retinal coloboma, Iris coloboma, Cataract, Microcornea ORPHA:2791
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Posterior subcapsular cataract ORPHA:637
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Band keratopathy, Cataract ORPHA:85410
Vogt-Koyanagi-Harada Disease
Cataract ORPHA:3437
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Spastic Paraplegia 9B, Autosomal Recessive
Cataract OMIM:616586
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal colobom... OMIM:612109
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Cirrhosis, Cataract, Chronic hepatitis, Band keratopathy, Keratoconjunctivitis OMIM:269200
Craniolenticulosutural Dysplasia
Sutural cataract, Punctate cataract OMIM:607812
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Congenital Tufting Enteropathy
Corneal erosion, Optic disc coloboma, Punctate keratitis, Cholestatic liver disease, Cataract ORPHA:92050
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Werner Syndrome
Cataract OMIM:277700
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Microphthalmia, Syndromic 5
Coloboma, Microcornea, Cataract OMIM:610125
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Decreased liver function, Cataract, Cholestasis, E... OMIM:124000
Lymphedema-Hypoparathyroidism Syndrome
Cataract OMIM:247410
Hereditary Fructose Intolerance
Hepatomegaly, Reduced aldolase level, Cataract, Chronic hepatic failure, Jaundice ORPHA:469
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Cataract, Corneal neovascularization, Conjunctivitis OMIM:278730
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Cataract, Anterior lenticonus OMIM:308940
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract ORPHA:370997
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract OMIM:608279
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... ORPHA:567983
Idiopathic Panuveitis
Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Cataract ORPHA:280921
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Intermediate Uveitis
Band keratopathy, Posterior synechiae of the anterior chamber, Cataract ORPHA:279914
Chondrodysplasia Punctata, Autosomal Dominant
Cataract OMIM:118650
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Elevated hepatic transaminase, Hepatocellular carcinoma,... OMIM:118450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatosplenomegaly, In... ORPHA:247598
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Absent anterior chamber of the eye, Cataract OMIM:259770
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Dense posterior cortical cataract OMIM:309000

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 Selenof

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 Selenof.

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

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MGI Allele Allele Type Produced
Selenoftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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