Pdss2 | prenyl (solanesyl) diphosphate synthase, subunit 2

GeneMGI:1918615Synonyms: PLMP, 5430420P03Rik, +2 more

Physiological systems

19 / 24 physiological systems tested

9 Significantly impacted by the knock-out

 Homeostasis/metabolism Adipose tissue Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Skeleton Craniofacial Mortality/aging

10 No significant impact

5 Not tested

Gene metrics:11Significant phenotypes
1Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues

Phenotypes

decreased anxiety-related response1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult7.39x10-5 
preweaning lethality, complete penetrance1 supporting datasetPdss2tm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
embryonic lethality prior to tooth bud stage1 supporting datasetPdss2tm1b(EUCOMM)HmguhomozygoteE12.5N/A * 
thrombocytopenia1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult5.28x10-6 
embryonic lethality prior to organogenesis1 supporting datasetPdss2tm1b(EUCOMM)HmguhomozygoteE9.5N/A * 
increased total body fat amount1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult5.82x10-5 
vertebral fusion1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult2x10-6 
abnormal tooth morphology1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult8.77x10-9 
decreased thigmotaxis1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult6.1x10-6 
cataract1 supporting datasetPdss2tm1b(EUCOMM)HmguheterozygoteEarly adult8.62x10-5 
* 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/a100% (2/2)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/a100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cerebellumheterozygoten/a100% (2/2)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 Pdss2 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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Pdss2tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Pdss2tm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Pdss2tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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