Phenotypes Associated with This Genotype

Genotype
MGI:3037661

• Allelic Composition: Gy/Y
• Genetic Background: involves: C3H/Sn * C57BL/6Ei

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

adipose tissue

decreased total body fat amount ( J:88352 )

♂ • a significant increase in lean body mass is seen compared to control

growth/size/body

decreased body weight ( J:88352 )

♂ • all males have significantly lower body weights (~50% less than controls) and a squared trunk

♂ • male Gy mutants weigh significantly less than other Phex^Hyp male mutants (Phex^Hyp, Phex^Hyp-2J, Phex^Hyp-Duk)

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:88352 )

♂ • mean auditory brainstem response thresholds are significantly higher than controls

homeostasis/metabolism

decreased circulating calcium level ( J:88352 )

♂ • at 6 weeks of age serum Ca²⁺ are significantly decreased compared to controls

decreased circulating potassium level ( J:88352 )

♂ • at 6 weeks of age serum PO₄ levels are significantly lower than controls

limbs/digits/tail

short hindlimb ( J:88352 )

♂ • shortened hind limbs are seen

abnormal limb bone morphology ( J:88352 )

♂

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

short tail ( J:88352 )

♂

skeleton

abnormal limb bone morphology ( J:88352 )

♂

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

disorganized long bone epiphyseal plate ( J:88352 )

♂ • disorganized femoral growth plates

decreased length of long bones ( J:88352 )

♂ • the long bones are shortened

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

increased diameter of long bones ( J:88352 )

♂ • the long bones are thickened

decreased bone mineral density ( J:88352 )

♂ • between 6 and 40 weeks of age under-mineralized bone is present throughout the body

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:38621 , J:88352