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-sulfate sulfatase
Synonyms:
N-acetylgalactosamine-6-sulfate sulfatase

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 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
Opacification of the corneal stroma, Keratan sulfate excretion in urine, Chondroitin sulfate excr... 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
Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Multiple enchondromatosis OMIM:191520
Metachondromatosis
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Multiple enchondromatosis ORPHA:2499
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Genochondromatosis Type 1
Multiple enchondromatosis ORPHA:85197
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Chondrodysplasia Calcificans Metaphysealis
Mucopolysacchariduria OMIM:215050
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Enchondromatosis, Multiple, Ollier Type
Abnormality of long bone morphology, Multiple enchondromatosis OMIM:166000
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Metachondromatosis
Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity, Cataract ORPHA:585
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Mucopolysacchariduria ORPHA:583
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Oculoskeletodental Syndrome
Developmental cataract, Renal agenesis, Mucopolysacchariduria, Hypercalciuria OMIM:618440
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity OMIM:272200
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Keratan sulfate excretion in urine, Chondroitin sulfate excr... OMIM:253000
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Ollier Disease
Abnormal cartilage morphology, Abnormality of the metaphysis, Multiple enchondromatosis ORPHA:296
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Urinary... OMIM:253220
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine OMIM:252900
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Mucopolysaccharidosis, Type Ii
Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heparan sulfate excreti... OMIM:309900
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine OMIM:252920
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Keratan sulfate excretion in urine OMIM:253010
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Kniest Dysplasia
Keratan sulfate excretion in urine, Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine OMIM:252930
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Mucopolysaccharidosis Type 3
Mucopolysacchariduria, Corneal opacity, Urinary glycosaminoglycan excretion, Cataract, Opacificat... ORPHA:581
Mucopolysaccharidosis, Type Iiid
Heparan sulfate excretion in urine OMIM:252940
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Mucolipidosis Ii Alpha/Beta
Opacification of the corneal stroma, Mucopolysacchariduria, Megalocornea OMIM:252500
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma, Dermatan sulfate excretion in urine OMIM:253200
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Enlarged kidney, Urinary glycosaminoglycan excretion, Prot... ORPHA:505248
Lethal Kniest-Like Dysplasia
Broad long bones, Abnormal cartilage matrix, Wide anterior fontanel, Abnormality of the ischium, ... ORPHA:2347
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Kniest Dysplasia
Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossification, Coxa vara, Hi... OMIM:156550
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... OMIM:203780
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, Lac... OMIM:256050
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Hurler Syndrome
Opacification of the corneal stroma, Urinary glycosaminoglycan excretion, Corneal opacity OMIM:607014
Cartilage-Hair Hypoplasia
Mucopolysacchariduria ORPHA:175
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Spondyloepiphyseal Dysplasia Tarda
Flattened femoral head, Abnormal cartilage morphology, Arthralgia of the hip, Abnormality of the ... ORPHA:93284
Mucopolysaccharidosis Type 2, Severe Form
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine ORPHA:217093
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Carpenter Syndrome
Toe syndactyly, Polydactyly, Broad thumb, Finger syndactyly, Genu valgum, Brachydactyly, Syndacty... ORPHA:65759
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... ORPHA:137596
Gm1 Gangliosidosis Type 1
Urinary glycosaminoglycan excretion, Increased urinary galactosylated oligosaccharide ORPHA:79255
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Short distal phalanx of finger, Epiphyseal stippling ORPHA:86822
Multiple Osteochondromas
Abnormality of tibia morphology, Short lower limbs, Abnormality of femur morphology, Abnormal low... ORPHA:321
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoglobus, Congenital hip dislocation, Abnormal cornea morphology... OMIM:229200
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Dermochondrocorneal Dystrophy
Irregular tarsal ossification, Subepithelial corneal opacities, Corneal dystrophy, Anterior corti... OMIM:221800
Keutel Syndrome
Short distal phalanx of finger, Calcification of cartilage ORPHA:85202
Juvenile Idiopathic Arthritis
Abnormal sacroiliac joint morphology, Cartilage destruction ORPHA:92
Adult-Onset Still Disease
Cartilage destruction ORPHA:829
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Corneal opacity, Iris coloboma ORPHA:2396
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Corneal crystals, Renal tubular dysfunction, Hyperphosphaturia, Abnormal ... ORPHA:411629
Moderate Hemophilia A
Cartilage destruction ORPHA:169805
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.

This service may be affected by the Covid-19 pandemic. See how

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