Phenotypes associated with this allele

• Allele Symbol: Phex^tm1.2Mkd
• Allele Name: targeted mutation 1.2, Marc K Drezner
• Allele ID: MGI:3775079
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Phex^tm1.2Mkd/Y	B6.129-Phex^tm1.2Mkd	MGI:3775087

Genotype
MGI:3775087

ot1

• Allelic Composition: Phex^tm1.2Mkd/Y
• Genetic Background: B6.129-Phex^tm1.2Mkd

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

homeostasis/metabolism

decreased circulating phosphate level ( J:131043 )

♂ • similar to the decrease in Phex^hyp hemizygous male mice at 8 weeks of age

abnormal renal phosphate reabsorption ( J:131043 )

♂ • reduction in renal phosphate uptake at 8 weeks of age is similar to that in Phex^hyp hemizygous male mice

renal/urinary system

abnormal renal phosphate reabsorption ( J:131043 )

♂ • reduction in renal phosphate uptake at 8 weeks of age is similar to that in Phex^hyp hemizygous male mice

skeleton

decreased length of long bones ( J:131043 )

♂

short femur ( J:131043 )

♂

abnormal osteocyte lacunocanalicular system morphology ( J:131043 )

♂ • the inner lacunocanalicular wall is buckled and enlarged

abnormal osteocyte lacuna morphology ( J:131043 )

♂ • osteocyte lacunae are increased in size and randomly organized compared to those in control bone

osteomalacia ( J:131043 )

♂ • osteomalacia characterized by hyperosteoidosis and an excess of unmineralilized osteoid

♂ • severity of osteomalacia is similar to that of Phex^hyp hemizygous male mice

limbs/digits/tail

short femur ( J:131043 )

♂