skeleton
absent teeth
(
J:150327
)
• homozygous mutant mice fail to develop teeth
|
mortality/aging
• mice homozygous for this mutation are born at the expected Mendelian frequency but die within one month
|
craniofacial
absent teeth
(
J:150327
)
• homozygous mutant mice fail to develop teeth
|
growth/size/body
absent teeth
(
J:150327
)
• homozygous mutant mice fail to develop teeth
|
• although indistinguishable from wild-type littermates at birth, by two weeks of age homozygous mutant mice are noticeably smaller
|
immune system
• nascent mutant macrophages accumulate normal steady-state levels of mature forms of lysosomal enzymes and exhibit a normal time course of acquisition and loss of lysosomal markers
• mutant and wild-type macrophages internalize bacteria with equal efficiency, but whereas E. coli ingested by wild-type macrophages become rounded, then fragmented within three hours, those phagocytosed by mutant macrophages retain their rod shape even after a 24-hour chase
• within one hour of macrophages' ingestion of FITC labeled beads, ratiometric analysis of the beads' fluorescence indicates that the phagosomes of wild-type macrophages have become acidic (pH 5.9 +/- 1.0), but phagosomes of mutant macrophages remain at neutral pH (pH 7.0 +/- 0.4)
|
hematopoietic system
• nascent mutant macrophages accumulate normal steady-state levels of mature forms of lysosomal enzymes and exhibit a normal time course of acquisition and loss of lysosomal markers
• mutant and wild-type macrophages internalize bacteria with equal efficiency, but whereas E. coli ingested by wild-type macrophages become rounded, then fragmented within three hours, those phagocytosed by mutant macrophages retain their rod shape even after a 24-hour chase
• within one hour of macrophages' ingestion of FITC labeled beads, ratiometric analysis of the beads' fluorescence indicates that the phagosomes of wild-type macrophages have become acidic (pH 5.9 +/- 1.0), but phagosomes of mutant macrophages remain at neutral pH (pH 7.0 +/- 0.4)
|