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 Cmtr1 by phenotypic similarity.
|Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome||
|Cardiomyopathy, Familial Hypertrophic 27||
|Congenital Tricuspid Valve Dysplasia||
||Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ...||ORPHA:555874|
||Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia...||OMIM:300257|
||Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent...||ORPHA:1457|
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 Cmtr1.
There are 1 publication which use IMPC produced mice or data.
|Title||Journal||IMPC Allele||PubMed ID|
|CMTR1-Catalyzed 2'-O-Ribose Methylation Controls Neuronal Development by Regulating Camk2α Expression Independent of RIG-I Signaling.||Cell reports (October 2020)||Cmtr1tm1b(EUCOMM)Hmgu Cmtr1tm1a(EUCOMM)Hmgu||PMC7574844|
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|MGI Allele||Allele Type||Produced|
|Cmtr1tm2e(EUCOMM)Hmgu||Targeted, non-conditional allele||ES Cells|
|Cmtr1tm2a(EUCOMM)Hmgu||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|
|Cmtr1tm1a(EUCOMM)Hmgu||KO first allele (reporter-tagged insertion with conditional potential)||Targeting vectors, ES Cells|
|Cmtr1tm1e(EUCOMM)Hmgu||Targeted, non-conditional allele||ES Cells|