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Gene: Slc30a2 MGI:106637

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Gene Summary

Name:
solute carrier family 30 (zinc transporter), member 2
Synonyms:
Znt2

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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
enlarged urinary bladder Slc30a2em1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Slc30a2em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Slc30a2em1(IMPC)Tcp HOM   Early adult 0.00
cataract Slc30a2em1(IMPC)Tcp HET   Early adult 5.35×10-05
abnormal skin morphology Slc30a2em1(IMPC)Tcp HET Early adult 0.00
increased fasting circulating glucose level Slc30a2em1(IMPC)Tcp HET Early adult 1.81×10-05
embryonic lethality prior to organogenesis Slc30a2em1(IMPC)Tcp HOM   E9.5 0.00

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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.

Eye Morphology

Images Ophthalmoscopy

105 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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Human diseases caused by Slc30a2 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 Slc30a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Alopecia OMIM:608118

The table below shows human diseases predicted to be associated to Slc30a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Alopecia OMIM:608118
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Cataract 42
Cataract, Developmental cataract OMIM:115900
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Hyperglycemia, Glucose intolerance OMIM:307500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Alopecia of scalp, Decreased testicular size, Impaired T cell function OMIM:201100
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Galactosemia Iv
Cataract OMIM:618881
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated transferrin saturation, Increased circulat... ORPHA:79230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly, Cataract OMIM:183800
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Slc39A8-Cdg
Hypomanganesemia, Abnormal blood zinc concentration ORPHA:468699
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... ORPHA:1856
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc ORPHA:541423
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Hand polydactyly, Type II ... ORPHA:2377
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos... OMIM:615986
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum ORPHA:1381
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Cataract, Iliac crest serration, Flaring of lower rib cage, Cuppe... ORPHA:168549
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Cataract, Impaired glucose tolerance, Glucose intolerance OMIM:606069
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Hip dislocation, Developmental cataract, Genu valgum, Fasting hypoglycemia ORPHA:436174
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... OMIM:262190
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... OMIM:617395
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Familial Benign Copper Deficiency
Early balding, Decreased circulating copper concentration ORPHA:1551
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Frontal upsweep of hair, Decreased serum iron ORPHA:391372
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Nail dystrophy, Abnormal circulating sele... ORPHA:79408
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Early balding OMIM:121270
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widening,... OMIM:614376
Beta-Thalassemia
Cholelithiasis, Abnormality of iron homeostasis ORPHA:848
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Abnormality of iron homeostasis, Elevated hepatic iron... ORPHA:231222
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Arachnodactyly, Lens subluxation, Microphakia ORPHA:171844
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... OMIM:242150
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased serum iron OMIM:212050
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Trichohepatoenteric Syndrome 2
Brittle hair, Decreased serum iron, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria OMIM:618857
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:604250
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal pancreas ... ORPHA:139507
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Nail-Patella Syndrome
Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first ribs, Iliac horns... OMIM:161200
Familial Renal Glucosuria
Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy, Hyperglycemia, ... ORPHA:69076
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Nephropathy, Renal cys... ORPHA:552
Aniridia 3
Aniridia, Cataract OMIM:617142
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron OMIM:602390
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Increased serum iron, Adrenal insufficiency, Elevat... ORPHA:300298
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... OMIM:106210
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Abnormality of iron homeostasis, Hypopituitarism, Hypo... ORPHA:231226
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Decreased circulating antibody level, Increased serum iron, ... OMIM:222470
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:209919
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Alopecia, Increased serum iron, Testicular atrophy OMIM:235200
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Panhypogammaglobulinemia, Hypoplasia of the thymus, Abnor... ORPHA:84064
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Abnormality of iron homeostasis, Hypopituitarism, Hypo... ORPHA:231214
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... ORPHA:1652
Acro-Renal-Ocular Syndrome
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... ORPHA:959
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Immunodeficiency 47
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... OMIM:300972
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
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
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Broad eyebrow, Sacral hypertrichosis, High nonceruloplasmin-bound serum copper, Highly arched eye... ORPHA:457351
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... OMIM:615234
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... OMIM:277900
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Craniorachischisis
Bifid sternum ORPHA:63260
Occipital Horn Syndrome
Coarse hair, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:304150
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Cryptorchidism, Abnormality of the anterior pituitary, High anterior hairli... ORPHA:438213
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism, High nonceruloplasmin-bound serum copper ORPHA:2834
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447

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 Slc30a2

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 Slc30a2.

No publications found that use IMPC mice or data for Slc30a2.

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MGI Allele Allele Type Produced
Slc30a2em1(IMPC)Tcp Exon Deletion Mice
Slc30a2tm46999(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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