Slc40a1 | solute carrier family 40 (iron-regulated transporter), member 1

GeneMGI:1315204Synonyms: IREG1, Slc11a3, +7 more

Physiological systems

20 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Adipose tissue Growth/size/body region Skeleton Mortality/aging

15 No significant impact

4 Not tested

Gene metrics:7Significant phenotypes
3Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues

Phenotypes

decreased bone mineral content2 supporting datasetsSlc40a1tm1b(EUCOMM)HmguheterozygoteEarly adult3.7x10-10 
decreased bone mineral density1 supporting datasetSlc40a1tm1b(EUCOMM)HmguheterozygoteEarly adult1.27x10-5 
embryonic lethality prior to tooth bud stage1 supporting datasetSlc40a1tm1b(EUCOMM)HmguhomozygoteE12.5N/A * 
preweaning lethality, complete penetrance1 supporting datasetSlc40a1tm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
increased circulating triglyceride level1 supporting datasetSlc40a1tm1b(EUCOMM)HmguheterozygoteEarly adult2.23x10-6 
decreased lean body mass1 supporting datasetSlc40a1tm1b(EUCOMM)HmguheterozygoteEarly adult2.19x10-6 
increased total body fat amount1 supporting datasetSlc40a1tm1b(EUCOMM)HmguheterozygoteEarly adult3.87x10-5 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

adrenal glandheterozygoten/a0% (0/2)0.7% (4/570)
aortaheterozygoten/a0% (0/2)0.19% (1/533)
boneheterozygoten/a0% (0/2)0% (0/394)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/a0% (0/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a100% (2/2)0.22% (1/454)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
cerebral cortexheterozygoten/a100% (2/2)0.41% (2/491)
esophagusheterozygoten/a0% (0/2)1.67% (7/419)
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Human diseases caused by Slc40a1 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.






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Histopathology

IMPC related publications

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Slc40a1tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Slc40a1tm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse

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