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Targeted Allele Detail
Symbol: Sh2d1atm1Pls
Name: SH2 domain containing 1A; targeted mutation 1, Pamela L Schwartzberg
MGI ID: MGI:2388241
Synonyms: SAP-
Gene: Sh2d1a  Location: ChrX:42502453-42529330 bp, + strand  Genetic Position: ChrX, 23.2 cM, cytoband A5
Germline Transmission:  Earliest citation of germline transmission: J:70032
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA splice mutation was introduced to the beginning of exon 3 along with an in-frame GFP-PGK-neo cassette. A threonine to isoleucine substitution at amino acid 68 (T68I), a mutation found in human X-linked lymphoproliferative disease (XLP) that inhibits protein binding, was also incorporated to ensure a null allele. Western blot analysis of thymocyte protein from homozygous mutant animals failed to detect a protein product. Antibodies against GFP also failed to detect a protein product. (J:70032)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Sh2d1a Mutation:  3 strains or lines available
Original:  J:70032 Czar MJ, et al., Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7449-54
All:  42 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory