Phenotypes Associated with This Genotype

Genotype
MGI:6197473

• Allelic Composition: Tg(APCS-Tnfsf11*)#aKhs/0
• Genetic Background: C57BL/6J-Tg(APCS-Tnfsf11*)#aKhs

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:264357 )

• relative birth frequency is slightly lower than expected

postnatal lethality, incomplete penetrance ( J:264357 )

• the fetuses delivered by cesarean section with swollen edematous skin do not survive after nursing

skeleton

abnormal osteoclast morphology ( J:264357 )

• most osteoclasts are large in size and multinucleated

increased osteoclast cell number ( J:264357 )

• osteoclast numbers are increased

• however, normal numbers of osteoblasts are seen

decreased bone mineral density of femur ( J:264357 )

♀ • bone mineral density of femurs is lower in females at 7-8 months of age

decreased trabecular bone mass ( J:264357 )

• trabecular bone mass is reduced at 6 weeks of age but not at 1 week of age and is almost completely absent at 14 weeks

• however, cortical bone is normal

osteoporosis ( J:264357 )

• Background Sensitivity: osteoporosis is more severe than on the mixed C3H/He and C57BL/6N background

increased bone resorption ( J:264357 )

• bone resorption is increased

decreased bone stiffness ( J:264357 )

♀ • bone stiffness is reduced in females at 7-8 months of age

decreased bone strength ( J:264357 )

♀ • bone strength is reduced in females at 7-8 months of age

fragile skeleton ( J:264357 )

♀ • brittle bone in 7-8 month old females

♀ • incidence of fracture in long bone is increased in 7-8 month old females

endocrine/exocrine glands

enlarged thymus medulla ( J:264357 )

• adults exhibit expanded thymic medulla

hematopoietic system

enlarged thymus medulla ( J:264357 )

• adults exhibit expanded thymic medulla

abnormal osteoclast morphology ( J:264357 )

• most osteoclasts are large in size and multinucleated

increased osteoclast cell number ( J:264357 )

• osteoclast numbers are increased

• however, normal numbers of osteoblasts are seen

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:264357 )

• alkaline phosphatase level is elevated at 7-9 months of age

• however, serum calcium levels are normal

skin edema ( J:264357 )

• some fetuses delivered by cesarean section on E18.5 have swollen edematous skin

immune system

enlarged thymus medulla ( J:264357 )

• adults exhibit expanded thymic medulla

abnormal osteoclast morphology ( J:264357 )

• most osteoclasts are large in size and multinucleated

increased osteoclast cell number ( J:264357 )

• osteoclast numbers are increased

• however, normal numbers of osteoblasts are seen

integument

skin edema ( J:264357 )

• some fetuses delivered by cesarean section on E18.5 have swollen edematous skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoporosis		DOID:11476	OMIM:166710	J:264357