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| Nomenclature |
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Symbol:
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Sh2d1atm1Pls
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Name:
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SH2 domain protein 1A;
targeted mutation 1, Pamela L Schwartzberg
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MGI ID: |
MGI:2388241 |
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Synonyms: |
SAP- |
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Gene:
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Sh2d1a
Location:
ChrX:42502453-42523697 bp, + strand
Genetic Position: ChrX,
23.2 cM, cytoband A5
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:70032
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
33 reference(s)
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Analysis Tools
