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

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

105 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 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 Morphology Embryo E9.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

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
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Alopecia OMIM:608118
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Superior rib anomalies OMIM:307500
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Alopecia of scalp, Impaired T cell function, Decreased serum zinc OMIM:201100
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased response to growth hormone stimulation test, Dec... ORPHA:470
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of end... ORPHA:79230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... ORPHA:89842
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Slc39A8-Cdg
Abnormal blood zinc concentration, Hypomanganesemia ORPHA:468699
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc ORPHA:541423
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased circulating iron concentration ORPHA:446
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Long penis, Hyperglycemia, Diabetic ketoacidosis, Hypogly... OMIM:262190
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Nail dystrophy, Decreased plasma total carnitine, Abnormal circulating selenium concentration, De... ORPHA:79408
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Sm... OMIM:617395
Cog2-Cdg
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Sm... ORPHA:435934
Type 1 Diabetes Mellitus
Polyuria, Diabetes mellitus, Hyperglycemia OMIM:222100
Foxp1 Syndrome
Hypothyroidism, Frontal upsweep of hair, Decreased circulating iron concentration ORPHA:391372
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Familial Benign Copper Deficiency
Early balding, Decreased circulating copper concentration ORPHA:1551
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Copper Deficiency, Familial Benign
Early balding, Decreased circulating copper concentration, Curly hair OMIM:121270
Hemochromatosis, Type 2B
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... OMIM:613313
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Hyperglycemia, Syndactyly, Brachy... OMIM:615986
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hypoparathyroidism, Cholelithiasis, Hypothyroidism, Elevated hep... ORPHA:231222
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating copper concentration, Decreased ci... OMIM:242150
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hypothyroidism, Elevated transferrin saturation, Increased circu... ORPHA:465508
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased circulating iron concentration OMIM:212050
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria OMIM:618857
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Decreased circulating iron conc... OMIM:614602
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Hemochromatosis, Type 3
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... OMIM:604250
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Renal cyst, Glycosuria, Hyperglycemia, Transient neonatal... ORPHA:552
Dietary Iron Overload Disease
Abnormal pancreas morphology, Elevated hepatic iron concentration, Elevated transferrin saturatio... ORPHA:139507
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Abnormal pancreas morphology, Decreased circul... ORPHA:48818
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Abnormality of iron homeostasis, Brittle hair, Decreased circulating antibo... OMIM:222470
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased circulating iron concentration OMIM:602390
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Adrenal ins... ORPHA:231226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Hypothyroidism, Elevated hepatic iron concentration, Increased ... ORPHA:300298
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Increased circulating iron concentration, Testicula... OMIM:235200
Hemochromatosis, Type 4
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Pa... ORPHA:84064
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Adrenal ins... ORPHA:231214
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating copper concentration, Chronic decreased ci... OMIM:300972
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Broad eyebrow, Sacral hypertrichosis, High nonceruloplasmin-bound serum co... ORPHA:457351
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Hirsutism, Elevated hepatic iron concentration, Abn... ORPHA:101330
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Irida Syndrome
Decreased circulating copper concentration ORPHA:209981
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Decreased circulating iron conc... OMIM:604290
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferri... OMIM:615234
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirub... OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... ORPHA:309854
Craniorachischisis
Bifid sternum ORPHA:63260
Occipital Horn Syndrome
Coarse hair, Decreased circulating copper concentration, Decreased circulating ceruloplasmin conc... OMIM:304150
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Drum... OMIM:303600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
High anterior hairline, Hypothyroidism, Decreased circulating iron concentration, Abnormality of ... ORPHA:438213
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Wrinkly Skin Syndrome
Cryptorchidism, Sparse hair, High nonceruloplasmin-bound serum copper ORPHA:2834
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration OMIM:616959
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... 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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