Mouse Genome Informatics
cx
    Slc34a1tm1Hten/Slc34a1tm1Hten
Slc34a3tm1Kimi/Slc34a3tm1Kimi

B6.129-Slc34a3tm1Kimi Slc34a1tm1Hten
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size/body
• marked growth retardation

homeostasis/metabolism
• plasma fibroblast growth factor 23 levels reduced
• abnormal phosphate re-uptake
• plasma levels of 1,25(OH)2 vitamin D3 are elevated at all time points tested
• significantly elevated calcium levels in urine

renal/urinary system
• abnormal phosphate re-uptake
• significantly elevated calcium levels in urine
• mineral deposition in kidneys

skeleton
• irregularly arranged metaphyseal trabecules
• deep growth plate cartilage
• reduced mineralization of trabecules
• significantly increased osteoid volume/bone volume
• develop typical features of rickets
• rescued by a high phosphate diet

Mouse Models of Human Disease
OMIM IDRef(s)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH 241530 J:152195