Spns2 | SPNS lysolipid transporter 2, sphingosine-1-phosphate

Physiological systems

20 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Pigmentation Vision/eye Hematopoietic system Behavior/neurological Skeleton Cardiovascular system

12 No significant impact

4 Not tested

Gene metrics:28Significant phenotypes
1Associated diseases
Expression examined in:90Adult tissues
0Embryo tissues

Phenotypes

decreased leukocyte cell number1 supporting datasetSpns2tm1b(KOMP)WtsihomozygoteEarly adult4.08x10-39 
abnormal pupil morphology1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult1.75x10-5 
cornea vascularization1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult4.21x10-21 
excessive tearing1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult5.58x10-6 
abnormal eyelid aperture1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult7.24x10-6 
increased thermal nociceptive threshold1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult6.97x10-5 
absent pinna reflex1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult5.54x10-30 
cornea opacity1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult1.34x10-21 
absent pinna reflex1 supporting datasetSpns2tm1b(KOMP)WtsihomozygoteEarly adult9.77x10-11 
decreased leukocyte cell number1 supporting datasetSpns2tm1a(KOMP)WtsihomozygoteEarly adult1.89x10-17 
* 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 glandhomozygoten/a0% (0/1)0.7% (4/570)
adrenal glandheterozygoten/a0% (0/11)0.7% (4/570)
aortahomozygoten/an/a0.19% (1/533)
aortaheterozygoten/an/a0.19% (1/533)
blood vesselhomozygoten/a0% (0/1)0% (0/173)
blood vesselheterozygoten/a0% (0/11)0% (0/173)
bonehomozygoten/a100% (1/1)0% (0/394)
boneheterozygoten/a100% (11/11)0% (0/394)
brainheterozygoten/a100% (11/11)0.86% (5/579)
brainhomozygoten/a100% (1/1)0.86% (5/579)
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Human diseases caused by Spns2 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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Spns2tm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Spns2tm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Spns2tm1c(KOMP)WtsiWild type floxed exon (post-Flp)mouse
Spns2tm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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