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Genes Phenotypes Help, News, Blog

Gene: Galns MGI:1355303

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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

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
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan 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, Multiple enchondromatosis, Arthralgia of the hip OMIM:191520
Metachondromatosis
Abnormal metaphysis morphology, Multiple enchondromatosis, 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
Opacification of the corneal stroma, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Abnormal long bone morphology OMIM:166000
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
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
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract 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
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Scheie Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93474
Hurler-Scheie Syndrome
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine OMIM:607015
Multiple Sulfatase Deficiency
Cataract, Mucopolysacchariduria, Corneal opacity ORPHA:585
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Fucosidosis
Mucopolysacchariduria, Corneal opacity ORPHA:349
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Mucopolysacchariduria ORPHA:583
Oculoskeletodental Syndrome
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Developmental cataract OMIM:618440
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity ORPHA:584
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity OMIM:272200
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Short Stature, Brussels Type
Calcification of cartilage, Delayed epiphyseal ossification ORPHA:2867
Mucopolysaccharidosis, Type Ivb
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan sulfate excr... OMIM:253010
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Ollier Disease
Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Corneal opacity, Hepara... OMIM:253220
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Hurler Syndrome
Dermatan sulfate excretion in urine, Corneal opacity, Opacification of the corneal stroma, Urinar... OMIM:607014
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan sulfate excr... OMIM:253000
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine OMIM:252920
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine OMIM:252900
Mucopolysaccharidosis, Type Ii
Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heparan sulfate excreti... OMIM:309900
Kniest Dysplasia
Lens luxation, Cataract, Keratan sulfate excretion in urine, Aplasia/Hypoplasia of the lens ORPHA:485
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Mucopolysaccharidosis Type 3
Cataract, Mucopolysacchariduria, Corneal opacity, Opacification of the corneal stroma, Urinary gl... ORPHA:581
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine OMIM:252930
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity ORPHA:579
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Tibial bowi... OMIM:156550
Hurler Syndrome
Mucopolysacchariduria, Corneal opacity ORPHA:93473
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... OMIM:203780
Mucopolysaccharidosis, Type X
Dermatan sulfate excretion in urine, Nephrolithiasis OMIM:619698
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Keratan sulfate excretion in... OMIM:615273
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excre... ORPHA:505248
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Lethal Kniest-Like Dysplasia
Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Abnormal cartilage matrix, ... ORPHA:2347
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal dystrophy, Corneal guttata OMIM:609141
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Opacification of the corneal stroma, Megalocornea, Mucopolysacchariduria OMIM:252500
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Atelosteogenesis, Type Ii
Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abnormal pelvic girdle bone morphology, La... OMIM:256050
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Cartilage-Hair Hypoplasia
Mucopolysacchariduria ORPHA:175
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Mucopolysaccharidosis, Type Vi
Dermatan sulfate excretion in urine, Corneal opacity OMIM:253200
Mucopolysaccharidosis, Type Iiid
Heparan sulfate excretion in urine OMIM:252940
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... ORPHA:65759
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
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
Spondyloepiphyseal Dysplasia Tarda
Finger swelling, Coxa vara, Short femoral neck, Flattened femoral head, Enlarged epiphyses of the... ORPHA:93284
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion ORPHA:79255
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Multiple Osteochondromas
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... ORPHA:321
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Short distal phalanx of finger, Short metacarpal ORPHA:86822
Brittle Cornea Syndrome 1
Keratoglobus, Congenital hip dislocation, Abnormal cornea morphology, Decreased corneal thickness... OMIM:229200
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Keutel Syndrome
Short distal phalanx of finger, Calcification of cartilage ORPHA:85202
Juvenile Idiopathic Arthritis
Cartilage destruction, Abnormal sacroiliac joint morphology ORPHA:92
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... 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
Iris coloboma, Corneal opacity, Abnormal cartilage morphology ORPHA:2396
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morph... ORPHA:411629
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Wide anterior fontanel, Triangular shaped distal phalan... OMIM:271665
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Reactive Arthritis
Conjunctivitis, Cartilage destruction 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.

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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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