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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slc34a1tm1Hten
targeted mutation 1, Harriet S Tenenhouse
MGI:2386786
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slc34a1tm1Hten/Slc34a1tm1Hten B6.129S2-Slc34a1tm1Hten/J MGI:4359225
hm2
Slc34a1tm1Hten/Slc34a1tm1Hten involves: 129S2/SvPas * C57BL/6J MGI:3029314
cx3
Slc34a1tm1Hten/Slc34a1tm1Hten
Slc34a3tm1Kimi/Slc34a3tm1Kimi
B6.129-Slc34a3tm1Kimi Slc34a1tm1Hten MGI:4359221


Genotype
MGI:4359225
hm1
Allelic
Composition
Slc34a1tm1Hten/Slc34a1tm1Hten
Genetic
Background
B6.129S2-Slc34a1tm1Hten/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc34a1tm1Hten mutation (1 available); any Slc34a1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• significantly reduced body weight at birth
• significantly reduced body weight at 12 weeks of age

homeostasis/metabolism
• at birth
• improves with age
• reduced plasma levels of 1,25(OH)2 vitamin D3
• improves with age
• renal inorganic phosphate wasting
• improves with age

renal/urinary system
• renal inorganic phosphate wasting
• improves with age
• mineral deposition in kidneys at 12 weeks of age




Genotype
MGI:3029314
hm2
Allelic
Composition
Slc34a1tm1Hten/Slc34a1tm1Hten
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc34a1tm1Hten mutation (1 available); any Slc34a1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological appearance of bone from wild-type, Slc34a1tm1Hten/Slc34a1+ and Slc34a1tm1Hten/Slc34a1tm1Hten mice

mortality/aging
• 44% of homozygotes die before or at weaning
• death is attributed to poor nutritional status
• homozygotes that survive weaning appear normal thereafter, despite smaller size and lower body weight

behavior/neurological
• homozygotes display some lethargy during the first 2 weeks of life
• homozygotes frequently have difficulties in feeding during the first 2 weeks of life

growth/size/body
• at birth, homozygotes are noticeably smaller than wild-type littermates
• at birth, homozygotes exhibit a significantly reduced body weight relative to wild-type controls (1.49 0.08 g vs 1.89 0.12 g)
• homozygotes remain significantly smaller than wild-type littermates for at least 4 months after birth
• homozygotes maintain a significantly lower body weight for at least 4 months after birth

homeostasis/metabolism
• at 2-3 months of age, serum PTH levels are appropriately decreased in response to hypercalciuria
• serum calcium levels are slightly but significantly increased at all ages examined, in an age-independent manner
• at 1-7 months of age, serum inorganic phosphate (Pi) levels are significantly reduced
• young homozygotes display significantly higher serum ALPase activity relative to age-matched wild-type and heterozygous mice
• however, by 4 months of age, serum ALPase activity is comparable in all three genotypes
• at 1-3 months of age, homozygotes exhibit an appropriate adaptive increase in serum 1,25(OH)2D levels in response to hypophosphatemia
• at 1 month of age, the urine calcium/creatinine ratio and the fractional excretion index for calcium (FEICa) are significantly increased
• at 1 month of age, the urine Pi/creatinine ratio and the fractional excretion index for Pi (FEIPi) are strikingly increased

renal/urinary system
N
• homozygotes show no evidence for amino aciduria, glycosuria, or proteinuria, indicating that the renal inorganic phosphate leak is not due to a generalized tubulopathy
• at 1 month of age, the urine calcium/creatinine ratio and the fractional excretion index for calcium (FEICa) are significantly increased
• at 1 month of age, the urine Pi/creatinine ratio and the fractional excretion index for Pi (FEIPi) are strikingly increased

skeleton
N
• homozygotes do not exhibit rickets or osteomalacia
• poor initial development of cancellous bone
• by 45 days of age, the number metaphyseal trabeculae exceeded that in wild-type
• initial impairment of secondary ossification in the epiphysis observed at 21 days of age
• by 45 days of age, the skeletal phenotype had reversed and overcompensated

muscle
• homozygotes display apparent muscle weakness during the first 2 weeks of life

reproductive system
• homozygotes display reduced reproductive ability relative to wild-type and heterozygous controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary hypophosphatemic rickets with hypercalciuria DOID:0050947 OMIM:241530
J:47637




Genotype
MGI:4359221
cx3
Allelic
Composition
Slc34a1tm1Hten/Slc34a1tm1Hten
Slc34a3tm1Kimi/Slc34a3tm1Kimi
Genetic
Background
B6.129-Slc34a3tm1Kimi Slc34a1tm1Hten
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc34a1tm1Hten mutation (1 available); any Slc34a1 mutation (32 available)
Slc34a3tm1Kimi mutation (0 available); any Slc34a3 mutation (18 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
hereditary hypophosphatemic rickets with hypercalciuria DOID:0050947 OMIM:241530
J:152195





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory