Rbm20<i><sup>m1Mlgw</sup></i> (RNA binding motif protein 20; mutation 1, Marion Greaser) - Rat Genome Database

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Gene: Rbm20m1Mlgw (RNA binding motif protein 20; mutation 1, Marion Greaser) Rattus norvegicus
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Symbol: Rbm20m1Mlgw
Name: RNA binding motif protein 20; mutation 1, Marion Greaser
RGD ID: 7241593
Description: a deletion in chromosome 1 between bp 260,070,892 and 260,166,363 originally found in Hsd:SD which is responsible for an altered titin isoform expression
ASSOCIATED WITH decreased aerobic running capacity
Type: allele  of Rbm20  
Previously known as: Rbm20^[m1Mlgw]; Rbm20m1Mlgw
Is Marker For: Strains:   (SDxF344)F1-Rbm20m1Mlgw   (SDxF344)F1xBN-Rbm20m1Mlgw+/+   (SDxF344)F1-Rbm20m1Mlgw+/+   (SDxF344)F1xBN-Rbm20m1Mlgw  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map1 RGD


Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Developmental changes in rat cardiac titin/connectin: transitions in normal animals and in mutants with a delayed pattern of isoform transition. Greaser ML, etal., J Muscle Res Cell Motil. 2005;26(6-8):325-32.
2. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Guo W, etal., Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693.
3. Pathophysiological defects and transcriptional profiling in the RBM20-/- rat model. Guo W, etal., PLoS One. 2013 Dec 19;8(12):e84281. doi: 10.1371/journal.pone.0084281. eCollection 2013.
4. Data registered by Dr. Greaser Personal communication between Dr. Greaser and the RGD curators.

Genomics


Related Rat Strains
The following Strains have been annotated to Rbm20m1Mlgw


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001107611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 Rbm20m1Mlgw  RNA binding motif protein 20; mutation 1, Marion Greaser  Rbm20m1Mlgw  RNA binding motif protein 20; mutation 1, Marion Greaser  Type changed (type changed from [gene] to [allele]) 629549 APPROVED