Phenotypes Associated with This Genotype

Genotype
MGI:5662066

• Allelic Composition: Tg(VDR*L233S,luc)T807Pike/0; Vdr^tm1Mbd/Vdr^tm1Mbd
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

endocrine/exocrine glands

parathyroid gland hyperplasia ( J:218709 )

increased activity of parathyroid ( J:218709 )

• hyperparathyroidism

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:218709 )

• parathyroid hormone levels are elevated even more than in single homozygous Vdr mutants

decreased circulating calcium level ( J:218709 )

decreased circulating phosphate level ( J:218709 )

skeleton

short tibia ( J:218709 )

• reduction in tibia length

decreased bone mineral density ( J:218709 )

• decrease in total body bone mineral density and in femur and spine bone mineral density

• bone loss is exaggerated at all sites compared to single homozygous Vdr mutants

decreased bone mineral density of femur ( J:218709 )

abnormal epiphyseal plate morphology ( J:218709 )

• disorganized growth plate

abnormal skeleton physiology ( J:218709 )

• aberrant skeletal growth

rickets ( J:218709 )

limbs/digits/tail

short tibia ( J:218709 )

• reduction in tibia length

integument

integument phenotype ( J:218709 )

N • mice show full rescue of the alopecia that is seen in single homozygous Vdr mutants and mice are able to initiate hair growth after depilation

N • mice exhibit normal epidermal morphology complete with the presence of hair follicles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rickets		DOID:10609		J:218709