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:
Ctr1,  4930445G01Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration OMIM:121270
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Decreased liver function, ... ORPHA:435934
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Viral hepatiti... ORPHA:139507
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic transaminase, Decreased transferri... ORPHA:300298
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increased serum iron, ... ORPHA:446
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegal... ORPHA:231222
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased circulating copper concentration, Decreas... ORPHA:48818
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Wilson Disease
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepatitis, Hepatic failu... OMIM:277900
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Splenomegaly, Elevated... ORPHA:766
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hepatomegaly, De... OMIM:613280
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Increased serum iron, Elevated hepatic t... OMIM:604250
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly ORPHA:848
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Elevated hepatic iron concentration, Cirrhosis OMIM:300868
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia OMIM:604290
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Cirrhosis, Hepatitis OMIM:614602
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... ORPHA:465508
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Hepatocel... OMIM:235200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... ORPHA:309854
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic... ORPHA:98870
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ... ORPHA:541423
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Hypermethioninemia, Cholestasis, Hepatic fibrosis, Ja... OMIM:222470
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice,... ORPHA:231226
Beta-Thalassemia Major
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice,... ORPHA:231214
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Cirrhosis, Hyperglutaminemia,... ORPHA:470
Slc39A8-Cdg
Abnormal blood zinc concentration, Hypomanganesemia, Abnormality of the liver ORPHA:468699
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Abnorma... ORPHA:84064
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased serum zinc, Decreased plasma total carnitine, 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.

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MGI Allele Allele Type Produced
Slc31a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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