Slc3a1 | solute carrier family 3, member 1

GeneMGI:1195264Synonyms: NTAA, D2H

Physiological systems

21 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Adipose tissue Growth/size/body region Hematopoietic system Skeleton Renal/urinary system

14 No significant impact

3 Not tested

Gene metrics:27Significant phenotypes
5Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues

Phenotypes

increased blood urea nitrogen level1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adult2.25x10-40 
increased kidney weight1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adult3.16x10-20 
cystolithiasis2 supporting datasetsSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
small kidney2 supporting datasetsSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
enlarged kidney1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
abnormal kidney morphology2 supporting datasetsSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
enlarged urinary bladder1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
increased circulating cholesterol level1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adult2.85x10-7 
increased circulating alkaline phosphatase level1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adult2.74x10-5 
decreased mean corpuscular volume1 supporting datasetSlc3a1tm1.1(KOMP)VlcghomozygoteEarly adult1.46x10-5 
* 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)
bloodheterozygoten/a0% (0/2)0% (0/17)
bone marrowheterozygoten/a0% (0/1)0% (0/22)
brainheterozygoten/a0% (0/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoten/an/a7.75% (22/284)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
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Human diseases caused by Slc3a1 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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Slc3a1em1(IMPC)Cnrmmouse
Slc3a1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Slc3a1tm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Slc3a1tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Slc3a1tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Slc3a1tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Slc3a1tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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