Mouse Strain information
APB ID 842
Added 23/05/2007
Last Edited 11/05/2014
Strain name: B6;129-Sh2d1atm1Pls/Apb
Nickname: Sap KO
Strain designation name: B6;129-Sh2d1atm1Pls/Apb
Genetics
Strain Types Mutant strain
Genetic Details Targeted knockout
Mode of Inheritance X-linked
1.  Affected Gene Name: SH2 domain protein 1A  
Chromosome X
Affected Gene Symbol Sh2d1a
Protein expression of altered gene: Nil
Genetic alteration of gene: 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.
Location on chromosome (bp): 39855630-39876874 bp, + strand From VEGA annotation of NCBI Build 37)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:1328352
Synonyms Duncan disease homolog, SAP
Allele Name targeted mutation 1, Pamela L Schwartzberg
Allele Symbol Sh2d1atm1Pls
MGI Allele Accession ID MGI:2388241
Allele synonyms: SAP-
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Decreased IgE level: * after immunization with ovalbumin, severe deficit in IgE is observed with little or no Ig E detected. Abnormal lymphocyte cell number: * although lymphocyte numbers were generally normal, occasional animals had increased T cell and NK cell numbers together with decreased B cell numbers in the spleen. Increased T cell proliferation: * tendency for T-cell proliferation to be increased even in the absence of infection. Abnormal T-helper 1 cell morphology: * biased toward the production of the Th1 cytokines Il-2 and IFN-gamma. Abnormal T-helper 2 cell morphology: * biased toward decreased production of the Th2 cytokine Il-4 Decreased IgE level: * although levels of IgM, IgG, and IgA were normal, IgE levels were reduced. Increased susceptibility to infection. Increased susceptibility to parasitic infection: * elevated T-cell response to Toxoplasma gondii infection lower titers of Ig isotypes directed against Toxoplasma antigens Increased susceptibility to viral infection: * increased T-cell response to infection with lymphocyte choriomeningitis virus (LCMV). * Elevated activity of CD8+ cytotoxic T lymphocytes in spleen CD4+ cells also increased 2-3X. * decrease in antibody secreting cells in spleen and bone marrow. * more virulent strains led to increased morbidity.
Original Genetic Background 129S6/SvEvTac x C57BL/6
Genetic Background Currently Maintained C57BL/6 x MLB
Strain identification
How is this strain characterised? Genotyping
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Yes
Research value of this Strain Models human disease: Lymphoproliferative Syndrome, X-Linked, 1; XLP1, OMIM ID:308240
Applicable Research Areas Models for human disease
Immunology and inflammation
Keywords
  • T cell
  • lymphoproliferative disease
  • X-linked
  • lymphocyte
  • B cell
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 17 mice)

APB stock genotyped verified by: The APF
Are live mice available? Unknown
MTA needs to be signed? Yes


   

 


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