Rspo1 | R-spondin 1

GeneMGI:2183426Synonyms: Rspondin, R-spondin

Physiological systems

22 / 24 physiological systems tested

13 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Integument Adipose tissue Growth/size/body region Nervous system Vision/eye Hematopoietic system Behavior/neurological Skeleton Renal/urinary system

9 No significant impact

2 Not tested

Gene metrics:18Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
0Embryo tissues

Phenotypes

abnormal testis morphology1 supporting datasetRspo1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
abnormal retina outer nuclear layer morphology2 supporting datasetsRspo1tm2b(KOMP)WtsihomozygoteEarly adult2.11x10-6 
increased bone mineral content1 supporting datasetRspo1tm1.1(KOMP)VlcghomozygoteEarly adult2.36x10-5 
decreased total retina thickness2 supporting datasetsRspo1tm2b(KOMP)WtsihomozygoteEarly adult2.73x10-7 
abnormal eye anterior chamber depth2 supporting datasetsRspo1tm2b(KOMP)WtsihomozygoteEarly adult2x10-9 
abnormal kidney morphology1 supporting datasetRspo1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
increased grip strength1 supporting datasetRspo1tm1.1(KOMP)VlcghomozygoteEarly adult9.23x10-6 
increased circulating alkaline phosphatase level1 supporting datasetRspo1tm2b(KOMP)WtsihomozygoteEarly adult3.44x10-5 
small testis1 supporting datasetRspo1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
abnormal vitreous body morphology2 supporting datasetsRspo1tm2b(KOMP)WtsihomozygoteEarly adult3.88x10-10 
* 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)
bloodheterozygoten/a0% (0/2)0% (0/17)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoten/a0% (0/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
cerebellumheterozygoten/a0% (0/2)0.56% (3/532)
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Human diseases caused by Rspo1 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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Rspo1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Rspo1tm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Rspo1tm2a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Rspo1tm2b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse

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