Sh2d1a^tm1Pls
Targeted Allele Detail

Summary

• Symbol: Sh2d1a^tm1Pls
• 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: Sh2d1a^tm1Pls page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70032
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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: 11 strains or lines available

References

• 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: 72 reference(s)