Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Polr2a by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities | Failure to thrive | OMIM:618603 |
The table below shows human diseases predicted to be associated to Polr2a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Silver-Russell Syndrome Due To 11P15 Microduplication | Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... | ORPHA:231144 | |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity | Postnatal growth retardation, Intrauterine growth retardation | OMIM:600546 | |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 | Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature | OMIM:618160 | |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities | Failure to thrive | OMIM:618603 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Polr2atm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Polr2atm48598(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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