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

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
Keratan sulfate excretion in urine, Opacification of the corneal stroma, 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
Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head OMIM:191520
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
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
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma OMIM:215250
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Abnormal long bone morphology OMIM:166000
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:184095
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Multiple Sulfatase Deficiency
Cataract, Mucopolysacchariduria, Corneal opacity ORPHA:585
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity OMIM:607015
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Mucolipidosis Iii Gamma
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:252605
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Oculoskeletodental Syndrome
Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Developmental cataract OMIM:618440
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity OMIM:272200
Mucolipidosis Type Iii Alpha/Beta
Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity ORPHA:423461
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Mucolipidosis Iii Alpha/Beta
Mucopolysacchariduria, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Mucopolysaccharidosis, Type Ivb
Keratan sulfate excretion in urine, Opacification of the corneal stroma, Chondroitin sulfate excr... OMIM:253010
Ollier Disease
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology ORPHA:296
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Opacification of the corneal stroma, Chondroitin sulfate excr... OMIM:253000
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Hurler Syndrome
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti... OMIM:607014
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Mucopolysaccharidosis, Type Ii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti... OMIM:309900
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine OMIM:252920
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Dermatan sulfate excreti... OMIM:253220
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine OMIM:252900
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation, Keratan sulfate excretion in urine ORPHA:485
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Dumbbell-shaped femur, Flared metaphysis, Hypoplastic ... OMIM:156550
Mucopolysaccharidosis Type 3
Cataract, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Mucopolysaccha... ORPHA:581
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine OMIM:252930
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... OMIM:615273
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Brachydacty... ORPHA:2347
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heav... ORPHA:505248
Mucopolysaccharidosis, Type X
Dermatan sulfate excretion in urine, Nephrolithiasis OMIM:619698
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Opacification of the corneal stroma, Enlarged kidney, Megalocornea OMIM:252500
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Abnormality of chromosome stability ORPHA:175
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Bifid humerus, Hitchhi... OMIM:256050
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Corneal opacity OMIM:253200
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Transcobalamin Deficiency
Acute kidney injury, Abnormality of chromosome stability, Methylmalonic aciduria ORPHA:859
Mucopolysaccharidosis, Type Iiid
Heparan sulfate excretion in urine OMIM:252940
Carpenter Syndrome
Toe syndactyly, Abnormal cornea morphology, Finger syndactyly, Broad thumb, Preaxial foot polydac... ORPHA:65759
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Arthralgia of the hip, Osteoarthritis of the distal interph... ORPHA:93284
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Mucopolysaccharidosis Type 2, Severe Form
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Corneal opacity ORPHA:217093
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion ORPHA:79255
Multiple Osteochondromas
Abnormal cartilage morphology, Abnormal tibia morphology, Abnormality of the tarsal bones, Genu v... ORPHA:321
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal ORPHA:86822
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Abnormal cornea morphology, Decreased corneal thickness,... OMIM:229200
Keutel Syndrome
Calcification of cartilage, Short distal phalanx of finger ORPHA:85202
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... ORPHA:411634
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Abnormal cartilage morphology, Corneal opacity ORPHA:2396
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Glycosuria, Low-molecular-weight pro... ORPHA:411629
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Progressive calcification of c... OMIM:271665
Adult-Onset Still Disease
Cartilage destruction ORPHA:829
Reactive Arthritis
Conjunctivitis, Cartilage destruction ORPHA:29207
Alkaptonuria
Calcification of cartilage, Corneal astigmatism, Cartilage destruction ORPHA:56

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

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