banner
Genes Phenotypes Help, News, Blog

Gene: Galns MGI:1355303

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
galactosamine (N-acetyl)-6-sulfatase
Synonyms:
N-acetylgalactosamine-6-sulfate sulfatase

Order Alleles

IMPC Data Collections

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

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.

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 Galns 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 Galns by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Opacification of the ... OMIM:253000

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Upington Disease
Multiple enchondromatosis, Flattened femoral head, Broad femoral neck, Arthralgia of the hip OMIM:191520
Metachondromatosis
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology ORPHA:2499
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Genochondromatosis Type 1
Multiple enchondromatosis ORPHA:85197
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Chondrodysplasia Calcificans Metaphysealis
Mucopolysacchariduria OMIM:215050
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma OMIM:215250
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Enchondromatosis, Multiple, Ollier Type
Abnormal long bone morphology, Multiple enchondromatosis OMIM:166000
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Metachondromatosis
Multiple enchondromatosis, Bowing of the long bones OMIM:156250
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
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
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine OMIM:607015
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Cataract, Corneal opacity ORPHA:585
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma ORPHA:583
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Oculoskeletodental Syndrome
Mucopolysacchariduria, Renal agenesis, Hypercalciuria, Developmental cataract OMIM:618440
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity OMIM:272200
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Mucopolysaccharidosis, Type Ivb
Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Corneal opacity, Opac... OMIM:253010
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Ollier Disease
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology ORPHA:296
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Hurler Syndrome
Corneal opacity, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Urinary... OMIM:607014
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Opacification of the ... OMIM:253000
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine OMIM:252920
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine OMIM:252900
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Corneal opacity, Dermata... OMIM:253220
Mucopolysaccharidosis, Type Ii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti... OMIM:309900
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Keratan sulfate excretion in urine, Lens luxation ORPHA:485
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine OMIM:252930
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Heparan sulfate excretion in urine, Mucopolysacchariduria, Urinary gly... ORPHA:581
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Kniest Dysplasia
Hip contracture, Cataract, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared met... OMIM:156550
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, Chondroitin sul... OMIM:615273
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Mucopolysaccharidosis, Type X
Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Hypoplastic ilia, Wide anterior fontanel, Abnormal... ORPHA:2347
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Megalocornea, Mucopolysacchariduria, Opacification of the corneal stroma OMIM:252500
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Mucopolysacchariduria ORPHA:175
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, Short greater... OMIM:256050
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Mucopolysaccharidosis, Type Iiid
Heparan sulfate excretion in urine OMIM:252940
Mucopolysaccharidosis, Type Vi
Corneal opacity, Dermatan sulfate excretion in urine OMIM:253200
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Transcobalamin Deficiency
Abnormality of chromosome stability, Acute kidney injury, Methylmalonic aciduria ORPHA:859
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Abnormal ... ORPHA:65759
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Corneal opacity, Dermatan sulfate excretion in urine ORPHA:217093
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Enlarged ... ORPHA:93284
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion ORPHA:79255
Multiple Osteochondromas
Deformed radius, Short metacarpal, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:321
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Short metacarpal, Abnormal cartilage matrix, Short distal phalanx of finger ORPHA:86822
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... OMIM:229200
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Keutel Syndrome
Calcification of cartilage, Short distal phalanx of finger ORPHA:85202
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Adult-Onset Still Disease
Cartilage destruction ORPHA:829
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Corneal opacity, Iris coloboma ORPHA:2396
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Bowing of the legs, Hip subluxation, Wide anterior fontanel, ... OMIM:271665
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Reactive Arthritis
Cartilage destruction, Conjunctivitis ORPHA:29207

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 Galns

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 Galns.

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

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
Galnstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Galnstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter