Gene: Cdk19 MGI:1925584
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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.
Human diseases caused by Cdk19 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.
The table below shows human diseases associated to Cdk19 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
Developmental And Epileptic Encephalopathy 87 | OMIM:618916 |
The table below shows human diseases predicted to be associated to Cdk19 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Ethanolaminosis | Cardiomegaly | OMIM:227150 | |
Cardiomyopathy, Dilated, 1I | Cardiomegaly, Dilated cardiomyopathy | OMIM:604765 | |
Cardiomyopathy, Familial Hypertrophic, 27 | Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... | OMIM:618052 | |
Congenital Tricuspid Valve Dysplasia | Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... | ORPHA:555874 | |
Aorta Coarctation | Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... | ORPHA:1457 | |
Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
Developmental And Epileptic Encephalopathy 87 | OMIM:618916 |
IMPC related publications
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdk19.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
CDK8 and CDK19 regulate intestinal differentiation and homeostasis via the chromatin remodeling complex SWI/SNF. | The Journal of clinical investigation (October 2022) | Cdk19em1(IMPC)J | PMC9566890 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Cdk19tm269906(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Cdk19em1(IMPC)J | Indel | Mice |
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