Phenotypes associated with this allele

• Allele Symbol: Trpv5^tm1Bind
• Allele Name: targeted mutation 1, Rene J M Bindels
• Allele ID: MGI:2684536
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trpv5^tm1Bind/Trpv5^tm1Bind	involves: 129 * C57BL/6	MGI:2684602

Genotype
MGI:2684602

hm1

• Allelic Composition: Trpv5^tm1Bind/Trpv5^tm1Bind
• Genetic Background: involves: 129 * C57BL/6

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

renal/urinary system

abnormal renal calcium reabsorption ( J:86949 )

• homozygotes exhibit calciuresis as a result of reduced active Ca²⁺ reabsorption within the early part of the distal convoluted renal tubules

• quantitative free-flow collection of tubular fluid revealed unaffected Ca²⁺ reabsorption up to the last loop of proximal renal tubules

increased urine calcium level ( J:86949 )

• homozygotes excrete ~6 times more Ca²⁺ in their urine, reaching a urinary Ca²⁺ concentration of up to 20 mM relative to 6 mM observed in wild-type littermates

• hypercalciuria persists even when homozygotes are placed on a Ca²⁺-deficient diet for 1 week

• in contrast to excessive renal Ca²⁺ wasting, total excretion of Na⁺ and K⁺ remains unaffected

decreased urine pH ( J:86949 )

• mutant urine is significantly more acidic than control urine

• neutralization of the acidic urine results in the development of large crystals

increased urine phosphate level ( J:86949 )

• homozygotes display a significant increase in urinary phosphate excretion relative to wild-type mice (512 30 mol and 327 25 mol per 24 hrs per three mice, respectively)

polyuria ( J:86949 )

• at 8-9 weeks of age, homozygotes exhibit polyuria relative to wild-type and heterozygous control mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:86949 )

N • homozygotes display normal serum Ca²⁺ and K⁺ concentrations, despite renal Ca²⁺ wasting and hyperphosphaturia

N • homozygotes display normal parathyroid hormone (PTH) levels, despite significantly elevated serum 1,25-(OH)2D3 levels

abnormal calcium ion homeostasis ( J:86949 )

• homozygotes exhibit calciuresis as a result of reduced active Ca²⁺ reabsorption within the early part of the distal convoluted renal tubules

• diminished active Ca²⁺ reabsorption in the kidney results in compensatory intestinal hyperabsorption, as shown by measuring changes in serum ⁴⁵Ca²⁺ at early time points after oral gavage

abnormal renal calcium reabsorption ( J:86949 )

• homozygotes exhibit calciuresis as a result of reduced active Ca²⁺ reabsorption within the early part of the distal convoluted renal tubules

• quantitative free-flow collection of tubular fluid revealed unaffected Ca²⁺ reabsorption up to the last loop of proximal renal tubules

abnormal vitamin D level ( J:86949 )

• homozygotes display elevated serum levels of 1,25-dihydroxycholecalciferol (1,25-(OH)2D3) relative to wild-type mice

increased urine calcium level ( J:86949 )

• homozygotes excrete ~6 times more Ca²⁺ in their urine, reaching a urinary Ca²⁺ concentration of up to 20 mM relative to 6 mM observed in wild-type littermates

• hypercalciuria persists even when homozygotes are placed on a Ca²⁺-deficient diet for 1 week

• in contrast to excessive renal Ca²⁺ wasting, total excretion of Na⁺ and K⁺ remains unaffected

decreased urine pH ( J:86949 )

• mutant urine is significantly more acidic than control urine

• neutralization of the acidic urine results in the development of large crystals

increased urine phosphate level ( J:86949 )

• homozygotes display a significant increase in urinary phosphate excretion relative to wild-type mice (512 30 mol and 327 25 mol per 24 hrs per three mice, respectively)

skeleton

abnormal long bone diaphysis morphology ( J:86949 )

• homozygotes display a significantly reduced polar moment of inertia (MOI), indicating an abnormal geometrical distribution and reduced mechanical properties of the diaphyseal bone (femur)

abnormal bone structure ( J:86949 )

• homozygotes display significant changes in bone structure, with no significant alterations in bone length or body weight relative to wild-type mice

increased osteoclast cell number ( J:86949 )

• homozygotes display a significant increase in the number and surface area of osteoclasts per bone surface area, as determined in femoral metaphyses

decreased compact bone thickness ( J:86949 )

• homozygotes display a significant reduction in cortical volume, cortical bone volume fraction, and cortical thickness relative to wild-type mice

decreased trabecular bone thickness ( J:86949 )

• homozygotes display a significant reduction of trabecular bone thickness in the femoral head

• however, the trabecular bone volume fraction, trabecular number, connectivity density, and structure model index remain unaffected in the femoral head

hematopoietic system

increased osteoclast cell number ( J:86949 )

• homozygotes display a significant increase in the number and surface area of osteoclasts per bone surface area, as determined in femoral metaphyses

immune system

increased osteoclast cell number ( J:86949 )

• homozygotes display a significant increase in the number and surface area of osteoclasts per bone surface area, as determined in femoral metaphyses