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Phenotypes Associated with This Genotype
Genotype
MGI:4867689
Allelic
Composition
Gbatm1.1Pmis/Gbatm1.2Pmis
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbatm1.1Pmis mutation (0 available); any Gba mutation (17 available)
Gbatm1.2Pmis mutation (0 available); any Gba mutation (17 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• thymi in pIpC-treated mice exhibit a greater than 10-fold increase in MHCII+ (IA/IE) and B220+ (CD45R) cells compared with wild-type mice
• pIpC-treated mice exhibit increased cells positive for CD69 and CD44 compared with wild-type mice
• T cell maturation in pIpC-treated mice is impaired compared to in wild-type mice
• up to 8-fold in pIpC-treated mice
• in pIpC-treated mice
• pIpC-treated mice exhibit increased serum levels of IL1b, IL1a, IL2, IL3, IL6, IL9, IL10, IL13, Ccl2, Ccl3, Ccl4, TNF-alpha, GM-CSF (granulocyte-macrophage colony-stimulating factor), and IFN-gamma compared with wild-type mice
• pIpC-treated mice exhibit decreased MIP-1alpha (Ccl3), MCP-1 (Ccl2), and MIP-1beta (Ccl4) serum levels compared with wild-type mice

skeleton
• osteoblast differentiation of stromal cells from pIpC-treated mice is reduced compared to for wild-type cells
• in vivo osteoblast differentiation in pIpC-treated mice is reduced compared to in wild-type mice
• pIpC-treated mice exhibit Gibbus formation unlike wild-type mice
• in pIpC-treated mice
• pIpC-treated mice exhibit reduced trabecular bone volume with increased trabecular space compared with wild-type mice
• pIpC-treated mice exhibit avascular osteonecrosis unlike wild-type mice
• at 14 months of age, pIpC-treated mice exhibit reduced bone formation compared with wild-type mice
• however, bone formation rate is normal at 3 months of age in pIpC-treated mice

liver/biliary system
• in pIpC-treated mice
• in pIpC-treated mice

growth/size/body
• in pIpC-treated mice

homeostasis/metabolism
• pIpC-treated mice exhibit increased serum levels of IL1b, IL1a, IL2, IL3, IL6, IL9, IL10, IL13, Ccl2, Ccl3, Ccl4, TNF-alpha, GM-CSF (granulocyte-macrophage colony-stimulating factor), and IFN-gamma compared with wild-type mice
• pIpC-treated mice exhibit decreased MIP-1alpha (Ccl3), MCP-1 (Ccl2), and MIP-1beta (Ccl4) serum levels compared with wild-type mice

hematopoietic system
• thymi in pIpC-treated mice exhibit a greater than 10-fold increase in MHCII+ (IA/IE) and B220+ (CD45R) cells compared with wild-type mice
• pIpC-treated mice exhibit increased cells positive for CD69 and CD44 compared with wild-type mice
• T cell maturation in pIpC-treated mice is impaired compared to in wild-type mice
• in the spleen and liver of pIpC-treated mice
• in pIpC-treated mice
• up to 8-fold in pIpC-treated mice
• in pIpC-treated mice

integument
• in the extremities of pIpC-treated mice

cellular
• osteoblast differentiation of stromal cells from pIpC-treated mice is reduced compared to for wild-type cells
• in vivo osteoblast differentiation in pIpC-treated mice is reduced compared to in wild-type mice

endocrine/exocrine glands
• thymi in pIpC-treated mice exhibit a greater than 10-fold increase in MHCII+ (IA/IE) and B220+ (CD45R) cells compared with wild-type mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Gaucher Disease, Type I 230800 J:167081


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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory