Phenotypes Associated with This Genotype

Genotype
MGI:4359221

• Allelic Composition: Slc34a1^tm1Hten/Slc34a1^tm1Hten; Slc34a3^tm1Kimi/Slc34a3^tm1Kimi
• Genetic Background: B6.129-Slc34a3^tm1Kimi Slc34a1^tm1Hten

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

growth/size/body

slow postnatal weight gain ( J:152195 )

• marked growth retardation

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:152195 )

• significantly reduced

increased circulating calcium level ( J:152195 )

• severe

decreased circulating phosphate level ( J:152195 )

• severe

abnormal circulating protein level ( J:152195 )

• plasma fibroblast growth factor 23 levels reduced

abnormal renal phosphate reabsorption ( J:152195 )

• abnormal phosphate re-uptake

abnormal vitamin D level ( J:152195 )

• plasma levels of 1,25(OH)2 vitamin D3 are elevated at all time points tested

abnormal urine homeostasis ( J:152195 )

increased urine calcium level ( J:152195 )

• significantly elevated calcium levels in urine

increased urine phosphate level ( J:152195 )

renal/urinary system

abnormal renal phosphate reabsorption ( J:152195 )

• abnormal phosphate re-uptake

abnormal urine homeostasis ( J:152195 )

increased urine calcium level ( J:152195 )

• significantly elevated calcium levels in urine

increased urine phosphate level ( J:152195 )

nephrocalcinosis ( J:152195 )

• mineral deposition in kidneys

skeleton

abnormal long bone metaphysis morphology ( J:152195 )

• irregularly arranged metaphyseal trabecules

abnormal epiphyseal plate morphology ( J:152195 )

• deep growth plate cartilage

increased width of hypertrophic chondrocyte zone ( J:152195 )

• expanded

abnormal bone mineralization ( J:152195 )

• reduced mineralization of trabecules

• significantly increased osteoid volume/bone volume

rickets ( J:152195 )

• develop typical features of rickets

• rescued by a high phosphate diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary hypophosphatemic rickets with hypercalciuria		DOID:0050947	OMIM:241530	J:152195