Pstpip1 | proline-serine-threonine phosphatase-interacting protein 1

GeneMGI:1321396Synonyms: def-2, CD2BP1

Physiological systems

20 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Endocrine/exocrine gland Growth/size/body region Liver/biliary system Hematopoietic system Skeleton Renal/urinary system

12 No significant impact

4 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Viability data
Body weight measurements
Embryo imaging data
Gene metrics:12Significant phenotypes
4Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal kidney morphology1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
enlarged thymus1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
increased kidney weight1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adult5.73x10-8 
abnormal spleen morphology1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
increased CD4-positive, alpha-beta T cell number1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adult3.74x10-5 
enlarged spleen1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
lordosis1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adult1.29x10-5 
enlarged liver1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
abnormal thymus morphology1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adultN/A * 
increased circulating total protein level1 supporting datasetPstpip1em1(IMPC)CcpczhomozygoteEarly adult1.79x10-5 
* 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

Human diseases caused by Pstpip1 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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Pstpip1em1(IMPC)CcpczExon Deletionmouse
Pstpip1tm44607(L1L2_gt2)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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