Phenotypes Associated with This Genotype

Genotype
MGI:6198726

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

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

homeostasis/metabolism

abnormal blood homeostasis ( J:264682 )

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

♀ • however, mice show normal levels of Vitamin D

increased circulating parathyroid hormone level ( J:264682 )

♀

decreased circulating phosphate level ( J:264682 )

♀ • mice are hypophosphatemic

♀ • however, mice are normocalcemic

decreased urine calcium level ( J:264682 )

♀ • mice show a tendency to hypocalciuria

increased urine phosphate level ( J:264682 )

♀

endocrine/exocrine glands

increased activity of parathyroid ( J:264682 )

♀ • mice exhibit hyperparathyroidism

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

decreased urine calcium level ( J:264682 )

♀ • mice show a tendency to hypocalciuria

increased urine phosphate level ( J:264682 )

♀

cardiovascular system

cardiovascular system phenotype ( J:264682 )

♀N • mice exhibit normal systolic blood pressure, normal cholesterol and high-density lipoprotein cholesterol levels in blood, no calcifications in the aorta, and no indication of left ventricular hypertrophy or cardiac fibrosis, indicating no cardiovascular disease

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