Phenotypes Associated with This Genotype

Genotype
MGI:4867688

• Allelic Composition: Gba1^tm1.1Pmis/Gba1^tm1.1Pmis; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

abnormal thymus morphology ( J:167081 )

• 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

enlarged spleen ( J:167081 )

• up to 8-fold in pIpC-treated mice

spleen hyperplasia ( J:167081 )

• in pIpC-treated mice

abnormal T cell differentiation ( J:167081 )

• 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

decreased double-positive T cell number ( J:167081 )

• in pIpC-treated mice

abnormal circulating cytokine level ( J:167081 )

• 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

abnormal circulating chemokine level ( J:167081 )

• pIpC-treated mice exhibit decreased MIP-1alpha (Ccl3), MCP-1 (Ccl2), and MIP-1beta (Ccl4) serum levels compared with wild-type mice

increased circulating interferon-gamma level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-1 alpha level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-1 beta level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-10 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-13 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-2 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-3 level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-6 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-9 level ( J:167081 )

• in pIpC-treated mice

decreased circulating tumor necrosis factor level ( J:167081 )

• in pIpC-treated mice

skeleton

abnormal osteoblast differentiation ( J:167081 )

• 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

kyphosis ( J:167081 )

• pIpC-treated mice exhibit Gibbus formation unlike wild-type mice

decreased bone mineral density ( J:167081 )

• in pIpC-treated mice

abnormal trabecular bone morphology ( J:167081 )

• pIpC-treated mice exhibit reduced trabecular bone volume with increased trabecular space compared with wild-type mice

abnormal skeleton physiology ( J:167081 )

• pIpC-treated mice exhibit avascular osteonecrosis unlike wild-type mice

decreased bone ossification ( J:167081 )

• 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

enlarged liver ( J:167081 )

• in pIpC-treated mice

increased liver weight ( J:167081 )

• in pIpC-treated mice

growth/size/body

decreased body size ( J:167081 )

• in pIpC-treated mice

enlarged liver ( J:167081 )

• in pIpC-treated mice

increased liver weight ( J:167081 )

• in pIpC-treated mice

enlarged spleen ( J:167081 )

• up to 8-fold in pIpC-treated mice

spleen hyperplasia ( J:167081 )

• in pIpC-treated mice

homeostasis/metabolism

decreased circulating HDL cholesterol level ( J:167081 )

• in pIpC-treated mice

abnormal circulating cytokine level ( J:167081 )

• 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

abnormal circulating chemokine level ( J:167081 )

• pIpC-treated mice exhibit decreased MIP-1alpha (Ccl3), MCP-1 (Ccl2), and MIP-1beta (Ccl4) serum levels compared with wild-type mice

increased circulating interferon-gamma level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-1 alpha level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-1 beta level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-10 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-13 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-2 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-3 level ( J:167081 )

• in pIpC-treated mice

decreased circulating interleukin-6 level ( J:167081 )

• in pIpC-treated mice

increased circulating interleukin-9 level ( J:167081 )

• in pIpC-treated mice

decreased circulating tumor necrosis factor level ( J:167081 )

• in pIpC-treated mice

increased circulating aspartate transaminase level ( J:167081 )

• in pIpC-treated mice

hematopoietic system

abnormal thymus morphology ( J:167081 )

• 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

enlarged spleen ( J:167081 )

• up to 8-fold in pIpC-treated mice

spleen hyperplasia ( J:167081 )

• in pIpC-treated mice

abnormal T cell differentiation ( J:167081 )

• 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

decreased double-positive T cell number ( J:167081 )

• in pIpC-treated mice

extramedullary hematopoiesis ( J:167081 )

• in the spleen and liver of pIpC-treated mice

decreased hemoglobin content ( J:167081 )

• in pIpC-treated mice

integument

pallor ( J:167081 )

• in the extremities of pIpC-treated mice

cellular

abnormal osteoblast differentiation ( J:167081 )

• 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

abnormal thymus morphology ( J:167081 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Gaucher's disease type I		DOID:0110957	OMIM:230800	J:167081