Mouse Genome Informatics
hm
    Tyrobptm1.1Viv/Tyrobptm1.1Viv
B6.129P2-Tyrobptm1.1Viv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
N
• despite the reduction in microglial cells, the number of astrocytes is normal (J:95232)
• at P10 or P15, the number of microglial cell numbers are decreased compared to in wild-type mice
• axon diameters are increased compared to in wild-type mice
• mice exhibit defects in myelin distribution and hypomyelination in the frontal brain regions compared to wild-type mice
• however, mice exhibit no evidence of oligodendrocyte degeneration, inflammation, microvascular changes or major axonal alterations
• the ratio of AMPA receptor excitatory postsynaptic current at -60 and +40 mV is increased compared to in wild-type mice
• mice exhibit an increased long term potentiation (LTP) with smaller decay compared to in wild-type mice without a difference in glutamate release probability at Schaffer collateral inputs
• mice exhibit a 3-fold increase in LTP and a 100% increase in NMDAR-independent LTP at Schaffer collateral synapses compared to wild-type mice

skeleton
• bone mineral content is increased compared to wild-type mice
• bone mineral content is increased compared to wild-type mice
• trabecular bone volume is doubled compared to controls
• increase in trabecular numbers resulting in a decrease in trabecular separation
• bone mass is increased 21% compared to in wild-type mice (J:129304)
• mild
• bone formation rates are reduced by more than 50% compared to in wild-type mice
• bone mineralizing surfaces are decreased compared to in wild-type mice
• however, mineral apposition rates are normal
• mice exhibit reduced bone remodeling due to defects in bone resorption (J:95232)
• following ovariectamy, mice exhibit an increased bone loss compared to in similarly treated wild-type mice (J:129304)
• osteoclast differentiation in vitro and function in vivo are impaired compared to in wild-type mice (J:95232)
• collagen type I degradation products are decreased compared to in wild-type mice (J:129304)
• decreased levels of deoxypyridinoline indicates impaired osteoclast-mediated bone resorption compared to in wild-type mice (J:95232)
• however, TRAP activity indicates that osteoclast numbers are normal (J:95232)
• in vitro, restored osteoclast differentiation by the presence of lymphocytes does not result in restored bone resorption as do wild-type cells (J:129304)

immune system
• at P10 or P15, the number of microglial cell numbers are decreased compared to in wild-type mice
• bone marrow cells are unable to generate multinucleated osteoclasts or microglial cells under specific conditions unlike wild-type bone marrow cells
• however, bone marrow cells can be induced to form dendritic cells and macrophages
• osteoclast differentiation in vitro and function in vivo are impaired compared to in wild-type mice (J:95232)
• collagen type I degradation products are decreased compared to in wild-type mice (J:129304)

homeostasis/metabolism
• mice treated with ifenprodil exhibit increased depression of NMDAR currents compared to similarly treated wild-type mice

hematopoietic system
• at P10 or P15, the number of microglial cell numbers are decreased compared to in wild-type mice
• bone marrow cells are unable to generate multinucleated osteoclasts or microglial cells under specific conditions unlike wild-type bone marrow cells
• however, bone marrow cells can be induced to form dendritic cells and macrophages
• osteoclast differentiation in vitro and function in vivo are impaired compared to in wild-type mice (J:95232)
• collagen type I degradation products are decreased compared to in wild-type mice (J:129304)

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy; 221770 J:95232