Spin1 | spindlin 1

GeneMGI:109242Synonyms: Spin

Physiological systems

19 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Nervous system Vision/eye Behavior/neurological Mortality/aging

14 No significant impact

5 Not tested

Gene metrics:7Significant phenotypes
0Associated diseases
Expression examined in:49Adult tissues
50Embryo tissues

Phenotypes

increased vertical activity1 supporting datasetSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult4.34x10-5 
preweaning lethality, complete penetrance1 supporting datasetSpin1tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
abnormal optic disk morphology1 supporting datasetSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult4.2x10-7 
hyperactivity5 supporting datasetsSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult1.57x10-6 
persistence of hyaloid vascular system1 supporting datasetSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult3.1x10-6 
increased circulating alkaline phosphatase level1 supporting datasetSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult7.09x10-7 
increased startle reflex1 supporting datasetSpin1tm1.1(KOMP)VlcgheterozygoteEarly adult8.9x10-5 
* 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 glandheterozygoteSection images
100% (2/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
bone marrowheterozygoteSection images
100% (2/2)0% (0/22)
brainheterozygoteSection images
100% (2/2)0.86% (5/579)
brainstemheterozygoteSection images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoteSection images
100% (2/2)0% (0/588)
cartilage tissueheterozygoteSection images
100% (2/2)0.22% (1/454)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteSection images
100% (2/2)0.41% (2/491)
epididymisheterozygoteSection images
100% (1/1)87.5% (21/24)
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Human diseases caused by Spin1 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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Spin1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Spin1tm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Spin1tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Spin1tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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