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Gene: Slc31a1 MGI:1333843

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 31, member 1
Synonyms:
4930445G01Rik,  Ctr1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc31a1 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 Slc31a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306

The table below shows human diseases predicted to be associated to Slc31a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:616860
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Copper Deficiency, Familial Benign
Decreased circulating copper concentration OMIM:121270
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... ORPHA:79230
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Wilson Disease
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... ORPHA:766
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration OMIM:300868
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... ORPHA:465508
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno... OMIM:235200
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... ORPHA:98870
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Trichohepatoenteric Syndrome 2
Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis OMIM:614602
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Dominant Beta-Thalassemia
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom... ORPHA:231226
Trichohepatoenteric Syndrome 1
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... OMIM:222470
Beta-Thalassemia Major
Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly... ORPHA:231214
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Decreased serum zinc OMIM:201100
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperalanin... ORPHA:470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Slc39A8-Cdg
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration ORPHA:468699
Syndromic Diarrhea
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo... ORPHA:84064
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration ORPHA:79408

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 Slc31a1

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 Slc31a1.

No publications found that use IMPC mice or data for Slc31a1.

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
Slc31a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc31a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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