Smc3 | structural maintenance of chromosomes 3

GeneMGI:1339795Synonyms: SmcD, Bamacan, +2 more

Physiological systems

20 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Pigmentation Integument Growth/size/body region Craniofacial Mortality/aging

15 No significant impact

4 Not tested

Gene metrics:7Significant phenotypes
2Associated diseases
Expression examined in:45Adult tissues
0Embryo tissues

Phenotypes

decreased body weight4 supporting datasetsSmc3tm1a(EUCOMM)WtsiheterozygoteEarly adult1.41x10-11 
abnormal coat/hair pigmentation1 supporting datasetSmc3tm1a(EUCOMM)WtsiheterozygoteEarly adult2.64x10-6 
abnormal snout morphology1 supporting datasetSmc3tm1a(EUCOMM)WtsiheterozygoteEarly adult6.24x10-5 
preweaning lethality, complete penetrance1 supporting datasetSmc3tm1a(EUCOMM)WtsihomozygoteEarly adultN/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/a100% (2/2)0.7% (4/570)
aortaheterozygoten/an/a0.19% (1/533)
blood vesselheterozygoten/a0% (0/2)0% (0/173)
boneheterozygoten/a0% (0/2)0% (0/394)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a100% (2/2)0.22% (1/454)
cerebellumheterozygoten/an/a0.56% (3/532)
cerebral cortexheterozygoten/an/a0.41% (2/491)
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Human diseases caused by Smc3 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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Smc3tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Smc3tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
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