Sar1b | secretion associated Ras related GTPase 1B

GeneMGI:1913647Synonyms: Sara2, 2900019I22Rik, +1 more

Physiological systems

20 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Integument Hematopoietic system Skeleton Mortality/aging

15 No significant impact

4 Not tested

Gene metrics:13Significant phenotypes
2Associated diseases
Expression examined in:45Adult tissues
0Embryo tissues

Phenotypes

decreased circulating LDL cholesterol level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult2.93x10-7 
decreased circulating cholesterol level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult3.4x10-8 
decreased circulating HDL cholesterol level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult4.32x10-8 
thrombocytosis1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult8.28x10-7 
decreased circulating serum albumin level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult6.42x10-5 
decreased circulating aspartate transaminase level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult1.78x10-5 
preweaning lethality, complete penetrance1 supporting datasetSar1btm1a(EUCOMM)WtsihomozygoteEarly adultN/A * 
increased bone mineral density1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult9.44x10-5 
decreased circulating alanine transaminase level1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult9.26x10-5 
abnormal skin condition1 supporting datasetSar1btm1a(EUCOMM)WtsiheterozygoteEarly adult3.64x10-6 
* 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/a100% (2/2)0% (0/173)
boneheterozygoten/a100% (2/2)0% (0/394)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a100% (2/2)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 Sar1b 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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Sar1btm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Sar1btm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Sar1btm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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