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Gene: Srebf2 MGI:107585

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Gene Summary

Name:
sterol regulatory element binding factor 2
Synonyms:
lop13,  nuc,  SREBP-2,  SREBP2,  SREBP2gc,  bHLHd2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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 Srebf2 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 Srebf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Galactokinase Deficiency
Hepatomegaly, Cataract, Hepatosplenomegaly, Nuclear cataract, Hypercholesterolemia ORPHA:79237
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
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Retinoschisis
Cataract ORPHA:792
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Hypocholesterolemia OMIM:620058
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
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
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract 47
Microcornea, Cataract OMIM:612018
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract OMIM:273680
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Developmental cataract, Psoriasiform dermatitis, Hypocholesterolemia OMIM:616834
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Nathalie Syndrome
Cataract OMIM:255990
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract OMIM:608885
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Mevalonic Aciduria
Elevated hepatic transaminase, Cataract, Fluctuating splenomegaly, Fluctuating hepatomegaly, Hepa... OMIM:610377
Proximal Myotonic Myopathy
Cataract ORPHA:606
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Cataract, Zonular cataract OMIM:222765
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cahmr Syndrome
Lamellar cataract OMIM:211770
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Retinitis Pigmentosa 40
Cataract OMIM:613801
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Pellagra-Like Syndrome
Cataract OMIM:260650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Cataract 49
Posterior cortical cataract OMIM:619593
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Aniridia 3
Aniridia, Cataract OMIM:617142
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 48
Cataract OMIM:618415
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Developmental cataract OMIM:193220
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
3-Methylglutaconic Aciduria, Type Viib
Zonular cataract, Hepatic steatosis, Cataract OMIM:616271
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Retinitis Pigmentosa 9
Cataract OMIM:180104
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Cataract, Zonular cataract, Hepatosplenomegaly ORPHA:168577
Genetic Hyperferritinemia Without Iron Overload
Cataract, Elevated hepatic iron concentration ORPHA:254704
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Hepatic steatosis, Cirrhosis OMIM:606069
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Elevated circulating alanine aminotransferase concentration, Hepatic stea... OMIM:618805
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Retinitis Pigmentosa 84
Cataract OMIM:618220
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism OMIM:612285
Schwannomatosis, Vestibular
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Rothmund-Thomson Syndrome, Type 2
Microcornea, Annular pancreas, Cataract, Zonular cataract OMIM:268400
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma ORPHA:3453
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Cirrhos... OMIM:269200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis ORPHA:369942
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis... OMIM:267750
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Cholestatic liver disease, Steatorrhea, Punctate keratitis ORPHA:92050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Psoriasiform dermatitis, Band keratopathy ORPHA:279914
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract ORPHA:637
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474

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 Srebf2

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 Srebf2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Srebf2tm1b(KOMP)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Srebf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells
Srebf2tm175245(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Srebf2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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