Gene Summary

Name:
zinc finger, matrin type 5
Synonyms:
2610510L01Rik,  D11Bwg0572e,  D11Bwg1548e

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Zmat5em1(IMPC)Hmgu HOM   Early adult 7.53×10-05
corneal deposits Zmat5em1(IMPC)Hmgu HET   Early adult 3.79×10-05
increased circulating aspartate transaminase level Zmat5em1(IMPC)Hmgu HET Early adult 5.79×10-05
increased grip strength Zmat5em1(IMPC)Hmgu HET Early adult 1.24×10-09

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Zmat5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zmat5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... ORPHA:98963
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:136120
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Cystinosis, Adult Nonnephropathic
Corneal crystals, Elevated circulating creatinine concentration OMIM:219750
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Cataract, Corneal arcus OMIM:618463
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ocular Cystinosis
Corneal crystals ORPHA:411641
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144300
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla... ORPHA:171673
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Corneal arcus OMIM:245900
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Corneal crystals, Hypokalemia, Abnormal corne... ORPHA:411629
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Corneal crystals, Hypocalcemia, Abnorm... ORPHA:411634
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Morquio Syndrome C
Corneal opacity OMIM:252300
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Hyperamylasemia, Hypokalemia, Band keratopathy OMIM:604278
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... OMIM:205400
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Cystinosis, Nephropathic
Hypophosphatemia, Recurrent corneal erosions, Hypokalemia, Hypophosphatemic rickets, Reduced bloo... OMIM:219800
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Norrie Disease
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Recurrent corneal erosions, Corneal scarring, Opacification of the corneal st... OMIM:256800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... OMIM:106210
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Opacification of the corneal stroma, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Ocu... OMIM:612582
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Bietti Crystalline Dystrophy
Crystalline corneal dystrophy ORPHA:41751
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... OMIM:604229
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Hypoargininemia, Hyperammonemia, Low plasma citrulline, Corneal arcus, Hypoprolinemia, ... OMIM:219150
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Elevated circulating long chain fatty acid concentration, Opacification of the corneal ... OMIM:214110
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... OMIM:614195
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma OMIM:201000
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Anterior chamber synechiae ORPHA:85410
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Corneal neovascularization, Opacification of the corneal stroma OMIM:158310
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Elevated circulating long chain fatty acid concentration, Opacification of the corneal ... OMIM:214100
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Hypoalbuminemia OMIM:251300
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Corneal arcus, Hyperapo... OMIM:210250
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Elevated circulating phytanic acid concentration, Increased circulati... OMIM:614866
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Oculoectodermal Syndrome
Limbal dermoid, Astigmatism, Microcornea, Opacification of the corneal stroma OMIM:600268
Lathosterolosis
Hyperbilirubinemia, Cataract, Opacification of the corneal stroma, Abnormal circulating cholester... OMIM:607330
Intermediate Uveitis
Cataract, Posterior synechiae of the anterior chamber, Band keratopathy ORPHA:279914
Mucolipidosis Ii Alpha/Beta
Megalocornea, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252500
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Opacification of the corneal stroma ORPHA:581
Xeroderma Pigmentosum
Cataract, Pterygium, Opacification of the corneal stroma, Keratitis, Conjunctival telangiectasia ORPHA:910
Bartsocas-Papas Syndrome 1
Corneal ulceration, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma,... OMIM:263650
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Band keratopathy ORPHA:2959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Opacific... OMIM:253280
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Noonan Syndrome 9
Prominent corneal nerve fibers OMIM:616559
Cockayne Syndrome B
Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma OMIM:133540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Band keratopathy OMIM:269200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Cockayne Syndrome A
Cataract, Opacification of the corneal stroma OMIM:216400
Pseudohypoparathyroidism Type 1A
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypocalcemia, Conjunctiviti... ORPHA:79443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Alagille Syndrome 1
Cataract, Abnormal anterior chamber morphology, Band keratopathy, Hypertriglyceridemia, Microcorn... OMIM:118450
H Syndrome
Hypertriglyceridemia, Corneal arcus ORPHA:168569
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Blau Syndrome
Cataract, Iritis, Band keratopathy OMIM:186580
Cockayne Syndrome
Cataract, Corneal ulceration, Hyperuricemia, Lentiglobus, Keratoconjunctivitis sicca, Band kerato... ORPHA:191
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Knobloch Syndrome 1
Cortical cataract, Band keratopathy, Persistent pupillary membrane, Lens subluxation, Development... OMIM:267750
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Hypertriglyceridemia, Decreased HDL cholesterol concentrati... OMIM:256040
Proximal Renal Tubular Acidosis
Cataract, Bicarbonaturia, Hypokalemia, Band keratopathy ORPHA:47159
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus OMIM:602782
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Keratitis, Corneal neovascularization, Opacification of the corneal s... OMIM:308205
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Noonan Syndrome 10
Prominent corneal nerve fibers OMIM:616564
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653

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 Zmat5

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 Zmat5.

No publications found that use IMPC mice or data for Zmat5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zmat5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zmat5em1(IMPC)Hmgu Exon Deletion Mice
Zmat5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zmat5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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