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 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Cataract 44
Developmental cataract OMIM:616509
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 7
Developmental cataract OMIM:115660
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Hepatosplenomegaly... ORPHA:79237
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Cholestasis, Decre... ORPHA:570422
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Dysequilibrium Syndrome
Cataract ORPHA:1766
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Nathalie Syndrome
Cataract OMIM:255990
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Cataract 47
Microcornea, Cataract OMIM:612018
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Cataract OMIM:614882
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Cahmr Syndrome
Lamellar cataract OMIM:211770
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Cataract, Jaundice, Nuclear cataract, Elevated gamma-glutamyltransferase level OMIM:608885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Cataract ORPHA:79238
Retinitis Pigmentosa 40
Cataract OMIM:613801
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Mevalonic Aciduria
Elevated hepatic transaminase, Cataract, Fluctuating hepatomegaly, Hepatosplenomegaly, Nuclear ca... OMIM:610377
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Cataract 49
Posterior cortical cataract OMIM:619593
Pellagra-Like Syndrome
Cataract OMIM:260650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Aniridia 3
Aniridia, Cataract OMIM:617142
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Cataract 48
Cataract OMIM:618415
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Congenital Varicella Syndrome
Cataract ORPHA:291
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
3-Methylglutaconic Aciduria Type 4
Cataract, Decreased liver function, Iris hypopigmentation ORPHA:67048
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma ORPHA:1473
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract OMIM:222765
Wagner Vitreoretinopathy
Cataract OMIM:143200
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Alg2-Cdg
Hepatomegaly, Cataract, Iris coloboma, Abnormal circulating enzyme concentration or activity ORPHA:79326
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Developmental cataract OMIM:193220
Morm Syndrome
Cataract ORPHA:75858
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Genetic Hyperferritinemia Without Iron Overload
Cataract, Elevated hepatic iron concentration ORPHA:254704
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Cataract, Zonular cataract, Hepatosplenomegaly ORPHA:168577
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Stickler Syndrome, Type V
Cataract OMIM:614284
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract ORPHA:35737
Retinitis Pigmentosa 4
Cataract OMIM:613731
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Cataract, Zonular cataract OMIM:616271
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma OMIM:613835
Galactosemia I
Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:230400
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Achromatopsia 3
Cataract OMIM:262300
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract OMIM:204000
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Cataract 24
Anterior polar cataract OMIM:601202
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Hepatic steatosis, Cirrhosis OMIM:606069
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism OMIM:612285
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma OMIM:212550
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis ORPHA:369942
Schwannomatosis, Vestibular
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Stiff Skin Syndrome
Cataract OMIM:184900
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract OMIM:613730
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Monilethrix
Cataract ORPHA:573
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Retinitis Pigmentosa 2
Cataract OMIM:312600
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Myh9-Related Disease
Elevated hepatic transaminase, Presenile cataracts ORPHA:182050
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Cataract, Hepatic steatosis ORPHA:369840
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Rothmund-Thomson Syndrome, Type 2
Microcornea, Cataract, Zonular cataract OMIM:268400
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:235555
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Iris transillumination defect, Cataract, Coloboma OMIM:617306
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis... OMIM:267750
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Werner Syndrome
Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:277700
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Cholestatic liver disease, Punctate keratitis ORPHA:92050
Microphthalmia, Syndromic 5
Microcornea, Coloboma, Cataract OMIM:610125
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Cirrhosis OMIM:269200
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Mednik Syndrome
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Hereditary Fructose Intolerance
Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Jaundice, Chronic hepatic fai... ORPHA:469
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae OMIM:615877
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularization OMIM:278730
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy ORPHA:279914
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Chondrodysplasia Punctata, Autosomal Dominant
Cataract OMIM:118650
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Dense posterior cortical cataract, Cor... OMIM:309000
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system... OMIM:609049

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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