mortality/aging
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• only ~25% of the expected number of heterozygous mutant mice are born; the developmental stage at which death occurs has not been determined
• surviving heterozygotes exhibit no overt phenotypic defects, are viable, and can breed
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immune system
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• heterozygous macrophages secrete somewhat diminished levels of TNF-alpha in response to lower doses of the TLR1/2 ligand Pam3SK4, but slightly elevated levels in response to higher doses
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• peritoneal macrophages from mice heterozygous for this mutation exhibit impairment in TNF-alpha secretion in response to MALP2 and PGN signaling via TLR1/2, CpG-DNA signaling via TLR9, and LPS signaling via TLR4
• resiquimod signaling via TLR7 stimulates statistically normal TNF-alpha secretion by heterozygous mutant macrophages
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