Sh2b3<sup>em1Mcwi</sup> (SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin) - Rat Genome Database

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Gene: Sh2b3em1Mcwi (SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin) Rattus norvegicus
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Symbol: Sh2b3em1Mcwi
Name: SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
RGD ID: 4139858
Description: This allele was made by zinc finger nuclease mutagenesis. The resulting mutation is an in-frame 6-bp deletion in exon 2 (del 847-852).
ASSOCIATED WITH decreased susceptibility to hypertension; decreased urine albumin level; increased regulatory T cell number; ASSOCIATED WITH Albuminuria; hypertension
Type: allele  of Sh2b3  
Previously known as: Sh2b3em1Mcwi
Is Marker For: Strains:   SS-Sh2b3em1Mcwi   SS-Sh2b3em1Mcwi-/-   SS-Sh2b3em1Mcwi-/+  
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. Knockout rats via embryo microinjection of zinc-finger nucleases. Geurts AM, etal., Science. 2009 Jul 24;325(5939):433.
2. PhysGen Knockouts PhysGen Knockout strains
3. Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation. Rudemiller NP, etal., Hypertension. 2015 May;65(5):1111-7. doi: 10.1161/HYPERTENSIONAHA.114.04736. Epub 2015 Mar 16.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Sh2b3em1Mcwi-var1 chr12 34750772 34750777 CACTTG - deletion mRatBN7.2
Sh2b3em1Mcwi-var1 chr12 40262913 40262918 CACTTG - deletion Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Sh2b3em1Mcwi


Expression


Sequence

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


Additional Information