Phenotypes Associated with This Genotype

Genotype
MGI:3037638

• Allelic Composition: Phex^Hyp-2J/Y
• Genetic Background: C57BL/6-Phex^Hyp-2J/J

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

craniofacial

abnormal craniofacial bone morphology ( J:88352 )

♂

small cranium ( J:88352 )

♂ • at 12 weeks the skull is significantly shorter in length and width with lower areal bone mineral density compared to controls

♂ • the distance between the inner tips of the orbital sockets (inner canthal distance) is increased

♂ • skull height, nose length, and lower/upper jaw length are unaffected

growth/size/body

decreased body weight ( J:88352 )

♂ • all males have significantly lower body weights (~25% less than controls) and a squared trunk

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:88352 )

♂N • mean auditory brainstem response thresholds are not different from controls

♂N • no degeneration of the organ of Corti or spiral ganglion is seen

abnormal scala tympani morphology ( J:88352 )

♂ • a precipitate is found in the scala tympani of the cochlea

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 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 hindlimb ( J:88352 )

♂ • shortened hind limbs are seen

short tail ( J:88352 )

♂

skeleton

abnormal craniofacial bone morphology ( J:88352 )

♂

small cranium ( J:88352 )

♂ • at 12 weeks the skull is significantly shorter in length and width with lower areal bone mineral density compared to controls

♂ • the distance between the inner tips of the orbital sockets (inner canthal distance) is increased

♂ • skull height, nose length, and lower/upper jaw length are unaffected

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:88352