Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Sh2d1atm1Pls
Name:	SH2 domain containing 1A; targeted mutation 1, Pamela L Schwartzberg
MGI ID:	MGI:2388241
Synonyms:	SAP-
Gene:	Sh2d1a  Location: ChrX:41591442-41610974 bp, + strand  Genetic Position: ChrX, 23.2 cM, cytoband A5
Alliance:	Sh2d1atm1Pls page

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 details: A 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 and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Sh2d1a Mutation:	10 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:	69 reference(s)