The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
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.
The table below shows human diseases predicted to be associated to Ppp2r3a by phenotypic similarity.
|Cramps, Familial Adolescent||
||Elevated circulating creatine kinase concentration||OMIM:218050|
|Isolated Asymptomatic Elevation Of Creatine Phosphokinase||
||Elevated circulating creatine kinase concentration||ORPHA:206599|
|Muscle Cramps, Familial||
||Elevated circulating creatine kinase concentration||OMIM:158400|
||Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level||ORPHA:2843|
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|MGI Allele||Allele Type||Produced|
|Ppp2r3atm1(KOMP)Wtsi||Reporter-tagged deletion allele (with selection cassette)||Targeting vectors, ES Cells|
|Ppp2r3atm459428(L1L2_GT0_LF2A_LacZ_BetactP_neo)||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors|
|Ppp2r3atm1(KOMP)Mbp||Reporter-tagged deletion allele (with selection cassette)||Mice, Targeting vectors, ES Cells|