Registered for phenotyping at IMPC

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

Gene Summary

Name:
sorbitol dehydrogenase
Synonyms:
Sodh-1,  Sdh-1,  Sdh1

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 Sord 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.

The table below shows human diseases associated to Sord by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
OMIM:618912

The table below shows human diseases predicted to be associated to Sord by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
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
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Aniridia 3
Cataract OMIM:617142
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
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
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Cataract 47
Cataract, Microcornea OMIM:612018
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus ORPHA:181393
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 11, Multiple Types
Cataract OMIM:610623
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus OMIM:615703
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 40
Cataract OMIM:613801
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia OMIM:617885
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Cataract 24
Anterior polar cataract OMIM:601202
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... OMIM:604367
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus OMIM:612526
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Retinitis Pigmentosa 4
Cataract OMIM:613731
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus OMIM:615980
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Morm Syndrome
Cataract ORPHA:75858
Hyperlipoproteinemia, Type Iv
Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:79085
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
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
Cahmr Syndrome
Lamellar cataract OMIM:211770
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Achromatopsia 3
Cataract OMIM:262300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Placental Insufficiency
Insulin resistance ORPHA:439167
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Diabetes mellitus OMIM:615381
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Maternal diabetes, Insulin-resistant diabetes mellitus, Diabetes mellitus ORPHA:79083
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:435660
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Impaired glucose tolerance, Diabetes mellitus, Insulin resistance OMIM:617253
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:528
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance ORPHA:73272
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Diabetes mellitus ORPHA:2348
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Primary Lipodystrophy
Insulin resistance, Type II diabetes mellitus ORPHA:90970
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Cataract 49
Posterior cortical cataract OMIM:619593
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... ORPHA:769
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Werner Syndrome
Insulin resistance, Type II diabetes mellitus ORPHA:902
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus OMIM:616541
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Monosomy 13Q34
Insulin resistance ORPHA:96168
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Whipple Disease
Insulin resistance ORPHA:3452
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Diabetes mellitus ORPHA:280365
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus OMIM:209900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance ORPHA:96182
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus ORPHA:91
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Gitelman Syndrome
Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Type I ... ORPHA:358
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Fasting hypoglycemia, Recurrent... ORPHA:508
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Cataract, Microcornea OMIM:608279
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Type I diabetes mellitus, Impaired glucose tolerance OMIM:606721
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Insulin resistance ORPHA:740
Pmm2-Cdg
Insulin resistance, Hyperinsulinemia ORPHA:79318
Alström Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance ORPHA:64
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
OMIM:618912

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 Sord

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 Sord.

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

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MGI Allele Allele Type Produced
Sordtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sordtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sordem1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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