Phenotypes associated with this allele

• Allele Symbol: Ciita^tm1Wrth
• Allele Name: targeted mutation 1, Walter Reith
• Allele ID: MGI:2388316
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ciita^tm1Wrth/Ciita^tm1Wrth	B6.129P2-Ciita^tm1Wrth	MGI:3696680
hm2	Ciita^tm1Wrth/Ciita^tm1Wrth	involves: 129P2/OlaHsd * C57BL/6	MGI:5788294

Genotype
MGI:3696680

hm1

• Allelic Composition: Ciita^tm1Wrth/Ciita^tm1Wrth
• Genetic Background: B6.129P2-Ciita^tm1Wrth

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

immune system

immune system phenotype ( J:117111 )

N • mice do not show decreased levels of soluble MHC-II, suggesting that B cells, dendritic cells and stromal cells do not contribute significantly to circulating levels of soluble I-A^b

Genotype
MGI:5788294

hm2

• Allelic Composition: Ciita^tm1Wrth/Ciita^tm1Wrth
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

abnormal trabecular bone morphology ( J:233241 )

• 24 week old mice show reduced trabecular bone mineral density

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, however mineral apposition and bone formation rates are normal

immune system

absent CD4-positive, alpha-beta T cells ( J:233241 )

• mice lack CD4+ T cells

• however, mice exhibit normal macrophage polarization and dendritic cell differentiation

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

absent CD4-positive, alpha-beta T cells ( J:233241 )

• mice lack CD4+ T cells

• however, mice exhibit normal macrophage polarization and dendritic cell differentiation

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