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Gene: Slc30a7 MGI:1913750

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Gene Summary

Name:
solute carrier family 30 (zinc transporter), member 7
Synonyms:
2610034N15Rik,  ZnT-7,  4833428C12Rik,  ZnT7,  1810059J10Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased prepulse inhibition Slc30a7em1(IMPC)Bay HOM Late adult 7.44×10-06
increased cornea thickness Slc30a7em1(IMPC)Bay HOM Late adult 2.50×10-05
increased cornea thickness Slc30a7em1(IMPC)Bay HET Early adult 6.81×10-05
decreased lean body mass Slc30a7em1(IMPC)Bay HOM Late adult 9.02×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

20 Images

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Eye Morphology

VIP of left eye

20 Images

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Eye Morphology

VIP of right eye

19 Images

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Eye Morphology

VIP of right eye

20 Images

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Eye Morphology

VIP of right fundus

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

VIP of left fundus

19 Images

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Eye Morphology

VIP of right fundus

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of left eye

19 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Human diseases caused by Slc30a7 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 Slc30a7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Diarrhea OMIM:601979
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decrease... ORPHA:89842
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Hyperammo... OMIM:617093
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Int... OMIM:603358
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Failure to thrive, Short stature, Diarrhea OMIM:201100
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Slc39A8-Cdg
Abnormal blood zinc concentration, Short stature, Failure to thrive in infancy, Elbow flexion con... ORPHA:468699
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Growth delay, Intrauterine growth retardation, Decreased serum zinc, Esophagitis ORPHA:541423
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration OMIM:121270
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:209919
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Flexion contracture, Gastrointestinal inflammation, Growth delay, Atrophi... ORPHA:79408
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Col... OMIM:614602
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Short stature ORPHA:1551
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion contracture, Constipati... ORPHA:391372
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Intrauterine grow... ORPHA:53693
Retinitis Pigmentosa
Keratoconus, Cataract, Obesity ORPHA:791
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:604250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:617395
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness ORPHA:90354
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Short stature, Decreased circulating copper co... OMIM:242150
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Increased circulating ferritin concentration, Elevated transferrin saturation, Elev... OMIM:615234
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron OMIM:602390
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubi... ORPHA:98870
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:606069
Microtriplication 11Q24.1
Keratoconus, Obesity ORPHA:289522
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Growth delay, Increased serum iron, Elevated hepati... ORPHA:300298
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Scarring, Abnormal circulating porphyrin concentrat... ORPHA:101330
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Trichohepatoenteric Syndrome 1
Short stature, Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninem... OMIM:222470
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Constipation, Abnormal repetitive mannerisms, High nonceruloplasmin-boun... ORPHA:457351
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Dominant Beta-Thalassemia
Failure to thrive in infancy, Diarrhea, Growth delay, Abnormality of iron homeostasis, Delayed pu... ORPHA:231226
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Elevated transferrin saturation, Peritonitis, Eleva... ORPHA:139507
Syndromic Diarrhea
Inguinal hernia, Gastritis, Short stature, Small for gestational age, Bloody diarrhea, Colitis, A... ORPHA:84064
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased serum iron OMIM:235200
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Failure to thrive, Corneal dystrophy ORPHA:52
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Beta-Thalassemia Major
Failure to thrive in infancy, Diarrhea, Growth delay, Abnormality of iron homeostasis, Delayed pu... ORPHA:231214
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Costello Syndrome
Keratoconus, Failure to thrive in infancy ORPHA:3071
Angelman Syndrome
Keratoconus, Astigmatism, Obesity, Iris hypopigmentation ORPHA:72
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness OMIM:618175
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
Gapo Syndrome
Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, High nonceruloplasmi... ORPHA:2834
Acute Transverse Myelitis
Paralytic ileus, Constipation, Decreased circulating copper concentration, Gastroparesis ORPHA:139417
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Gastroesophageal reflux, Constipation, Dysphagia, Uterine pr... ORPHA:438213
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Dysphagia, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, ... ORPHA:447
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

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 Slc30a7

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 Slc30a7.

No publications found that use IMPC mice or data for Slc30a7.

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
Slc30a7tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc30a7em1(IMPC)Bay Exon Deletion Mice
Slc30a7tm364391(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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