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Sh2d1arpl
Spontaneous Allele Detail
Summary
Symbol: Sh2d1arpl
Name: SH2 domain containing 1A; regression of phenotype associated with lpr
MGI ID: MGI:3761605
Synonyms: MRLrpl, MRL/rpl
Gene: Sh2d1a  Location: ChrX:41591442-41610974 bp, + strand  Genetic Position: ChrX, 23.2 cM, cytoband A5
Alliance: Sh2d1arpl page
Mutation
origin
Strain of Origin:  MRL-Faslpr
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsAn adenyl nucleotide insertion occurred within the 1st exon of the gene at codon 21, causing a frameshift mutation. Western analysis confirmed there was no expression of the wild-type protein. (J:126261)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sh2d1a Mutation:  10 strains or lines available
References
Original:  J:126261 Komori H, et al., A signal adaptor SLAM-associated protein regulates spontaneous autoimmunity and Fas-dependent lymphoproliferation in MRL-Faslpr lupus mice. J Immunol. 2006 Jan 1;176(1):395-400
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory