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

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Gene: Sh2b3^em2Mcwi (SH2B adaptor protein 3; zinc finger nuclease induced mutant 2, Medical College of Wisconsin) Rattus norvegicus

Analyze

Symbol:

Sh2b3^em2Mcwi

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 ventricle muscle contractility; increased lymphocyte cell number; increased monocyte cell number; ASSOCIATED WITH Myocardial Reperfusion Injury

Type:

allele of Sh2b3

Previously known as:

Sh2b3em2Mcwi

Is Marker For:

Strains: SS-Sh2b3^em2Mcwi SS-Sh2b3^em2Mcwi-/-

Latest Assembly:

mRatBN7.2 - mRatBN7.2 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Cytogenetic Map	12		RGD

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Myocardial Reperfusion Injury (IMP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

decreased ventricle muscle contractility (IMP)

increased lymphocyte cell number (IMP)

increased monocyte cell number (IMP)

increased neutrophil cell number (IMP)

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 Sh2b3^em2Mcwi

SS-Sh2b3^em2Mcwi-/-

SS-Sh2b3^em2Mcwi

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype