Phenotypes Associated with This Genotype

Genotype
MGI:5492338

• Allelic Composition: Phex^m1Jrt/Phex⁺
• Genetic Background: B6.129S1-Phex^M1Jrt

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

growth/size/body

decreased body size ( J:196537 )

♀

decreased body weight ( J:196537 )

♀ • observed at 8 weeks of age

decreased body length ( J:196537 )

♀

limbs/digits/tail

camptomelia ( J:196537 )

♀ • abnormal curvature of the long bones

skeleton

camptomelia ( J:196537 )

♀ • abnormal curvature of the long bones

decreased length of long bones ( J:196537 )

♀ • shorter bones throughout the skeleton, including tibiae and femurs

abnormal pelvic girdle bone morphology ( J:196537 )

♀ • abnormal curvature of the pelvic bones

small vertebrae ( J:196537 )

♀ • shorter, smaller vertebrae, in particular the tail vertebrae

abnormal joint morphology ( J:196537 )

♀ • marked enlargement of all joints

homeostasis/metabolism

decreased circulating calcium level ( J:196537 )

♀

decreased circulating phosphate level ( J:196537 )

♀

increased circulating alkaline phosphatase level ( J:196537 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:196537