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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
preweaning lethality, complete penetrance Slc30a2em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Slc30a2em1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Slc30a2em1(IMPC)Tcp HET 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.

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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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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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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
Alopecia, Decreased serum zinc 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
Alopecia, Decreased serum zinc OMIM:608118
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
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Superior rib anomalies, Glucose intolerance OMIM:307500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Decreased testicular size, Alopecia of scalp, Decreased serum zinc OMIM:201100
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc OMIM:601979
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased response to growth hormone stimulation te... ORPHA:470
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Abnormality of endocrine pancre... ORPHA:79230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Slc39A8-Cdg
Hypomanganesemia, Abnormal blood zinc concentration 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 serum pyruvate, Increased circulating ferriti... OMIM:603358
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration ORPHA:446
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... OMIM:617395
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Abnormal circulating selenium concentration, Nail dystrophy, De... ORPHA:79408
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Cog2-Cdg
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... ORPHA:435934
Foxp1 Syndrome
Decreased circulating iron concentration, Hypothyroidism, Frontal upsweep of hair ORPHA:391372
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Early balding ORPHA:1551
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Early balding, Curly hair OMIM:121270
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Hemochromatosis, Type 2B
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... OMIM:613313
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Hyperglycemia, Renal insufficiency, Polydactyly, Postaxial polydactyl... OMIM:615986
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Elevated hepatic iron concentration, Hypop... ORPHA:231222
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Alopecia, Increased serum bile acid concentration, Decreased circulating cerulop... OMIM:242150
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hypothyroidism, Testicular atrophy, Abnormality of ... ORPHA:465508
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased circulating iron concentration OMIM:212050
Trichohepatoenteric Syndrome 2
Sparse hair, Decreased circulating iron concentration, Trichorrhexis nodosa, Uncombable hair, Bri... OMIM:614602
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Hemochromatosis, Type 3
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... OMIM:604250
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Dietary Iron Overload Disease
Increased circulating cortisol level, Abnormal pancreas morphology, Increased circulating ferriti... ORPHA:139507
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance,... ORPHA:552
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Trichohepatoenteric Syndrome 1
Sparse hair, Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine ... OMIM:222470
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration OMIM:602390
Dominant Beta-Thalassemia
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Abnormality of iron h... ORPHA:231226
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Adrenal i... ORPHA:300298
Hemochromatosis, Type 1
Testicular atrophy, Alopecia, Increased circulating iron concentration, Increased circulating fer... OMIM:235200
Hemochromatosis, Type 4
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Syndromic Diarrhea
Panhypogammaglobulinemia, Trichorrhexis nodosa, Hypoplasia of the thymus, Hypothyroidism, Uncomba... ORPHA:84064
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Beta-Thalassemia Major
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Abnormality of iron h... ORPHA:231214
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Exocrine pancreatic ins... OMIM:300972
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration ORPHA:209919
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic 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
Increased circulating iron concentration, Hypertrichosis, Increased circulating ferritin concentr... ORPHA:101330
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... 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
Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin 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
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration OMIM:620306
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, Hy... OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... ORPHA:309854
Craniorachischisis
Bifid sternum ORPHA:63260
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Pili torti, Decreased circulating copper conce... OMIM:304150
Coffin-Lowry Syndrome
Bifid sternum, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing, Short metacarpal,... OMIM:303600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, High anterior hairline, Increased circulating prolactin... ORPHA:438213
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Wrinkly Skin Syndrome
Sparse hair, High nonceruloplasmin-bound serum copper, Cryptorchidism ORPHA:2834
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration OMIM:616959
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... 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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