Gene Summary

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

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.

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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
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
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 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
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Aniridia 3
Cataract OMIM:617142
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Trichomegaly
Cataract OMIM:190330
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Hepatosplenomegaly, Cataract, Hypercholesterolemia ORPHA:79237
Nathalie Syndrome
Cataract ORPHA:2663
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, 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
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
X-Linked Retinoschisis
Cataract ORPHA:792
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Corneal arcus OMIM:620058
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... ORPHA:566
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Retinitis Pigmentosa 56
Nuclear cataract, Posterior subcapsular cataract OMIM:613581
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Nuclear cataract, Posterior subcapsular cataract ORPHA:280914
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death OMIM:273680
Cataract 47
Cataract, Microcornea OMIM:612018
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Cataract, Hepatomegaly OMIM:614876
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Developmental cataract, Psoriasiform dermatitis OMIM:616834
Nathalie Syndrome
Cataract OMIM:255990
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Mevalonic Aciduria
Fluctuating hepatomegaly, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenomegaly, Elevate... OMIM:610377
Cataract 11, Multiple Types
Cataract OMIM:610623
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Galactose Mutarotase Deficiency
Decreased liver function, Cataract, Hepatomegaly, Cholestasis ORPHA:570422
Galactose Epimerase Deficiency
Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Cahmr Syndrome
Lamellar cataract OMIM:211770
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Retinitis Pigmentosa 40
Cataract OMIM:613801
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Pellagra-Like Syndrome
Cataract OMIM:260650
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cataract 49
Posterior cortical cataract OMIM:619593
Congenital Varicella Syndrome
Cataract ORPHA:291
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Cataract, Zonular cataract OMIM:616271
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Decreased liver function ORPHA:67048
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Cataract, Jaundice, Zonular cataract ORPHA:168577
Retinitis Pigmentosa 9
Cataract OMIM:180104
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract OMIM:212550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Vitreoretinochoroidopathy
Pulverulent cataract, Microcornea OMIM:193220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly OMIM:613730
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Cataract, Hepatomegaly OMIM:606069
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Achromatopsia 3
Cataract OMIM:262300
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cataract... OMIM:618805
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract OMIM:302350
Neurofibromatosis, Type Ii
Cortical cataract, Juvenile posterior subcapsular lenticular opacities OMIM:101000
Joubert Syndrome 9
Hepatic fibrosis, Cataract, Astigmatism OMIM:612285
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Splenomegaly, Cirrhosis, Elevat... OMIM:607765
Peroxisome Biogenesis Disorder 10B
Cataract, Prolonged neonatal jaundice OMIM:617370
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cataract, Microcornea, Zonular cataract OMIM:268400
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Cerulean cataract, Posterior subcapsular cataract, Cataract, Anterior... ORPHA:67036
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract, Increased circulating cortisol level ORPHA:3453
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Band keratopathy, Steatorrhea, Cirrhosis, Chronic hepatitis, K... OMIM:269200
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Iris transillumination defect, Developmental cataract, Cortic... OMIM:267750
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Congenital Tufting Enteropathy
Cholestatic liver disease, Steatorrhea, Cataract, Corneal erosion, Punctate keratitis ORPHA:92050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Neurofibromatosis Type 2
Cortical cataract, Posterior subcapsular cataract ORPHA:637
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Band keratopathy, Cataract, Psoriasiform dermatitis ORPHA:279914
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Developmental cataract, Hypercholesterolemia 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 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

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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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