Lss | lanosterol synthase

GeneMGI:1336155Synonyms: 2810025N20Rik, D10Ertd116e, +1 more

Physiological systems

21 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Vision/eye Hematopoietic system Mortality/aging

16 No significant impact

3 Not tested

Gene metrics:8Significant phenotypes
7Associated diseases
Expression examined in:49Adult tissues
62Embryo tissues

Phenotypes

preweaning lethality, complete penetrance4 supporting datasetsLsstm1b(KOMP)WtsihomozygoteEarly adultN/A * 
increased circulating alkaline phosphatase level1 supporting datasetLsstm1b(KOMP)WtsiheterozygoteEarly adult3.31x10-6 
embryonic lethality prior to organogenesis1 supporting datasetLsstm1b(KOMP)WtsihomozygoteE9.5N/A * 
abnormal lens morphology1 supporting datasetLsstm1b(KOMP)WtsiheterozygoteEarly adult9.57x10-6 
increased leukocyte cell number1 supporting datasetLsstm1b(KOMP)WtsiheterozygoteEarly adult4.12x10-5 
embryonic lethality prior to tooth bud stage1 supporting datasetLsstm1b(KOMP)WtsihomozygoteE12.5N/A * 
* 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)
brainheterozygoteWholemount images
100% (2/2)0.86% (5/579)
brainstemheterozygoteWholemount images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
cerebral cortexheterozygoten/a0% (0/2)0.41% (2/491)
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Human diseases caused by Lss 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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Lsstm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Lsstm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Lsstm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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