Phenotypes Associated with This Genotype

Genotype
MGI:5788295

• Allelic Composition: Tg(CD4-CIITA)357Ccum/?
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

skeleton

increased osteoclast cell number ( J:233241 )

• increase in osteoclast numbers

• bone marrow monocytes stimulated with M-CSF and RANKL exhibit increased production of giant multinucleated TRAP+ osteoclast-like cells

• however, numbers of osteoblasts are normal

decreased trabecular bone volume ( J:233241 )

• trabecular bone volume fraction is decreased by about two thirds

decreased bone trabecula number ( J:233241 )

• trabecular number is decreased by about two thirds

increased bone trabecular spacing ( J:233241 )

• trabecular separation is about doubled

osteoporosis ( J:233241 )

• mice develop severe spontaneous osteoporosis

increased bone resorption ( J:233241 )

• increase in circulating levels of C-terminal telopeptides of collagen type I, indicating increased bone resorption

• however, mineral apposition and bone formation rates are normal

immune system

increased osteoclast cell number ( J:233241 )

• increase in osteoclast numbers

• bone marrow monocytes stimulated with M-CSF and RANKL exhibit increased production of giant multinucleated TRAP+ osteoclast-like cells

• however, numbers of osteoblasts are normal

homeostasis/metabolism

increased circulating type I collagen C-terminal telopeptide level ( J:233241 )

• increase in circulating levels of C-terminal telopeptides of collagen type I, indicating increased bone resorption

hematopoietic system

increased osteoclast cell number ( J:233241 )

• increase in osteoclast numbers

• bone marrow monocytes stimulated with M-CSF and RANKL exhibit increased production of giant multinucleated TRAP+ osteoclast-like cells

• however, numbers of osteoblasts are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoporosis		DOID:11476	OMIM:166710	J:233241