Smo | smoothened, frizzled class receptor

GeneMGI:108075Synonyms: E130215L21Rik

Physiological systems

23 / 24 physiological systems tested

4 Significantly impacted by the knock-out

 Integument Embryo Mortality/aging Cardiovascular system

19 No significant impact

1 Not tested

Gene metrics:9Significant phenotypes
6Associated diseases
Expression examined in:49Adult tissues
62Embryo tissues

Phenotypes

preweaning lethality, complete penetrance1 supporting datasetSmotm1AmchomozygoteEarly adultN/A * 
abnormal embryo development1 supporting datasetSmotm1b(KOMP)WtsihomozygoteE9.5N/A * 
abnormal pericardium morphology1 supporting datasetSmotm1b(KOMP)WtsihomozygoteE9.5N/A * 
embryonic lethality prior to tooth bud stage1 supporting datasetSmotm1b(KOMP)WtsihomozygoteE12.5N/A * 
preweaning lethality, complete penetrance3 supporting datasetsSmotm1b(KOMP)WtsihomozygoteEarly adultN/A * 
abnormal skin morphology1 supporting datasetSmotm1b(KOMP)WtsiheterozygoteEarly adultN/A * 
increased heart rate variability1 supporting datasetSmotm1b(KOMP)WtsiheterozygoteEarly adult2.94x10-5 
abnormal embryo turning1 supporting datasetSmotm1b(KOMP)WtsihomozygoteE9.5N/A * 
decreased heart rate1 supporting datasetSmotm1b(KOMP)WtsiheterozygoteEarly adult6.13x10-7 
prolonged RR interval1 supporting datasetSmotm1b(KOMP)WtsiheterozygoteEarly adult3.51x10-7 
* 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/a100% (2/2)0.19% (1/533)
boneheterozygoten/a100% (2/2)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/a100% (2/2)0.22% (1/454)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
cerebellumheterozygoten/a100% (2/2)0.56% (3/532)
cerebral cortexheterozygoten/a0% (0/2)0.41% (2/491)
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Human diseases caused by Smo 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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Smotm199121(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector
Smotm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Smotm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Smotm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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