Phenotypes Associated with This Genotype

Genotype
MGI:3806979

• Allelic Composition: Phex^Pug/Y
• Genetic Background: involves: C57BL/6J

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

cellular

decreased chondrocyte apoptosis ( J:136463 )

♂ • decreased apoptotic chondrocytes at chondro-osseous junctions

growth/size/body

decreased body size ( J:136463 )

♂ • normal size at birth

♂ • size decrease detectable by 3 weeks of age

decreased body length ( J:136463 )

♂ • square, shortened body

disproportionate dwarf ( J:136463 )

♂ • more severe dwarfism than females

♂ • develops after weaning

limbs/digits/tail

short hindlimb ( J:136463 )

♂ • shortened hind limbs

abnormal tail development ( J:136463 )

♂ • tails grow slowly

short tail ( J:136463 )

♂ • tail 70% normal

skeleton

decreased chondrocyte apoptosis ( J:136463 )

♂ • decreased apoptotic chondrocytes at chondro-osseous junctions

abnormal skeleton morphology ( J:136463 )

♂ • reduced length of most bones in the body

disorganized long bone epiphyseal plate ( J:136463 )

♂ • distribution and differentiation normal at E18.5 in the tibia

♂ • expanded hypertrophic chondrocyte layer at day 4 in the tibia

♂ • widened and irregular growth plates in tibias at day 40

decreased bone mineral density ( J:136463 )

♂ • osteopenia involving the whole skeleton but particularly the vertebrae

♂ • detectable radiographically by 8 weeks of age

♂ • lower bone mineral density

decreased bone mineral density of vertebrae ( J:136463 )

increased trabecular bone volume ( J:136463 )

♂ • increased trabecular bone volume

abnormal bone mineralization ( J:136463 )

♂

homeostasis/metabolism

decreased circulating calcium level ( J:136463 )

♂ • slightly lowered serum calcium levels

decreased circulating phosphate level ( J:136463 )

♂ • reduced serum levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:136463