Sh2b3<sup>em2Mcwi</sup> (SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin) - Rat Genome Database

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Gene: Sh2b3em2Mcwi (SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin) Rattus norvegicus
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Symbol: Sh2b3em2Mcwi
Name: SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
RGD ID: 5509982
Description: This allele was made by ZFN mutagenesis. The resulting mutation is a 1-bp deletion in exon 7 (del 1589) in SS/JrHsdMcwi
ASSOCIATED WITH decreased heart ventricle muscle contractility; increased lymphocyte cell number; increased monocyte cell number; ASSOCIATED WITH Myocardial Reperfusion Injury
Type: allele  of Sh2b3  
Previously known as: Sh2b3^[em2Mcwi]; Sh2b3em2Mcwi
Is Marker For: Strains:   SS-Sh2b3em2Mcwi   SS-Sh2b3em2Mcwi-/-  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map12 RGD


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. SH2B3 Is a Genetic Determinant of Cardiac Inflammation and Fibrosis. Flister MJ, etal., Circ Cardiovasc Genet. 2015 Apr;8(2):294-304. doi: 10.1161/CIRCGENETICS.114.000527. Epub 2015 Jan 27.
2. Knockout rats via embryo microinjection of zinc-finger nucleases. Geurts AM, etal., Science. 2009 Jul 24;325(5939):433.
3. PhysGen Knockouts PhysGen Knockout strains
4. Creation and preliminary characterization of a leptin knockout rat. Vaira S, etal., Endocrinology. 2012 Nov;153(11):5622-8. doi: 10.1210/en.2012-1462. Epub 2012 Sep 4.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Sh2b3em2Mcwi-var1 chr12 34750773 34750773 A - deletion mRatBN7.2

Related Rat Strains
The following Strains have been annotated to Sh2b3em2Mcwi


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_031621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JX215366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information

RGD Curation Notes
Note Type Note Reference
gene_other 1-bp deletion (848) in exon 2 in the reference sequence differs from JX215366 4139871
gene_other According to personal communication between RGD curators and Dr. H. Jacob's group the position of the 1-bp deletion is in exon 7 in SS/JrHsdMcwi (JX215366) 4139871