Phenotypes Associated with This Genotype

Genotype
MGI:6198725

• Allelic Composition: Phex^Mhdabap024/Y
• Genetic Background: C3HeB/FeJ-Phex^Mhdabap024

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

homeostasis/metabolism

increased urine creatinine level ( J:264682 )

♂ • increase in urine creatinine levels

abnormal blood homeostasis ( J:264682 )

♂ • high circuiting intact FGF23 levels at 12 and 27 weeks of age

♂ • C-terminal FGF23 levels are higher than intact FGF23 levels

increased circulating parathyroid hormone level ( J:264682 )

♂

decreased circulating phosphate level ( J:264682 )

♂ • mice are hypophosphatemic

♂ • however, mice are normocalcemic

decreased circulating C-reactive protein level ( J:264682 )

♂ • C-reactive protein in plasma is lower

decreased vitamin D level ( J:264682 )

♂ • low 1,25(OH)2D levels due to decreased synthesis rate and despite increased inactivation

decreased urine calcium level ( J:264682 )

♂ • mice show a tendency to hypocalciuria

♂ • however, mice are normophosphatauric

endocrine/exocrine glands

increased activity of parathyroid ( J:264682 )

♂ • mice exhibit hyperparathyroidism

immune system

decreased circulating C-reactive protein level ( J:264682 )

♂ • C-reactive protein in plasma is lower

liver/biliary system

liver/biliary system phenotype ( J:264682 )

♂N • no liver inflammation is seen

renal/urinary system

renal/urinary system phenotype ( J:264682 )

♂N • mice exhibit normal glomerular filtration rate, plasma urea and creatinine levels, and urea clearance, and no nephrocalcinosis, indicating normal kidney function

increased urine creatinine level ( J:264682 )

♂ • increase in urine creatinine levels

decreased urine calcium level ( J:264682 )

♂ • mice show a tendency to hypocalciuria

♂ • however, mice are normophosphatauric

oliguria ( J:264682 )

♂ • mice excrete less urine

skeleton

decreased bone mineral density ( J:264682 )

♂

abnormal compact bone morphology ( J:264682 )

♂ • lower cortical bone mineral density

cardiovascular system

cardiovascular system phenotype ( J:264682 )

♂N • mice exhibit normal cholesterol and high-density lipoprotein cholesterol levels in blood, normal cardiac function and left ventricle wall thickness, no calcifications in the aorta, and no indication of left ventricular hypertrophy, cardiac fibrosis, or cardiac inflammation, indicating no cardiovascular disease

decreased systemic arterial systolic blood pressure ( J:264682 )

♂ • mice exhibit lower systolic blood pressure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:264682