Rbm20 | RNA binding motif protein 20

GeneMGI:1920963Synonyms: 1110018J23Rik, 2010003H22Rik

Physiological systems

20 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Nervous system Vision/eye Hematopoietic system Cardiovascular system

14 No significant impact

4 Not tested

Gene metrics:7Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

increased circulating triglyceride level1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adult2.25x10-5 
absent optic nerve1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adultN/A * 
small spleen1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adultN/A * 
cataract1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adult1.36x10-5 
abnormal retina morphology1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adult2.94x10-5 
abnormal vitreous body morphology1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adult1.63x10-5 
abnormal heart shape1 supporting datasetRbm20em1(IMPC)MbphomozygoteEarly adultN/A * 
* 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 Rbm20 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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Rbm20em1(IMPC)MbpExon Deletionmouse
Rbm20tm82933(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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