Phenotypes Associated with This Genotype

Genotype
MGI:3779048

• Allelic Composition: Vdr^tm1Mbd/Vdr^tm1Mbd
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Expansion of the growth plate and decrease in hypertrophic chondrocyte apoptosis in Phex^Hyp/? and Vdr^tm1Mbd/Vdr^tm1Mbd mice

homeostasis/metabolism

abnormal mineral homeostasis ( J:99866 )

decreased circulating phosphate level ( J:99866 )

skeleton

increased width of hypertrophic chondrocyte zone ( J:99866 )

• expansion of the growth plate is associated with impaired apoptosis of late hypertrophic chondrocytes

abnormal chondrocyte morphology ( J:99866 )

• impaired hypertrophic chondrocyte apoptosis

• a 'rescue diet' of high-calcium/low-phosphate restores the normal level of apoptosis and the growth plate phenotype

rickets ( J:99866 )

• mutants develop rickets secondary to impaired apoptosis of late hypertrophic chondrocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rickets		DOID:10609		J:99866