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Phenotypes Associated with This Genotype
Genotype
MGI:3576740
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
involves: 129S4/SvJae * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• NK T cells are functionally competent in mice on a background with BALB/c unlike in mice on a background with C57BL/6
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH
• when activated in vitro by anti-CD3 and anti-CD28 stimulation T cells express very low amounts of IL4, IL10, and IL13; however under polarizing Th2 conditions T cells produce normal amounts of IL4, IL10, and IL13
• after infection with Leishmania major draining lymph node cells produce less IL4, IL10, and IL13
• footpad lesions and parasite burdens are reduced in homozygotes following Leishmania major infection

hematopoietic system
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
J:97756


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory