Phenotypes associated with this allele

• Allele Symbol: Vdr^tm1.1Gcm
• Allele Name: targeted mutation 1.1, Geert Carmeliet
• Allele ID: MGI:2183409
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vdr^tm1.1Gcm/Vdr^tm1.1Gcm	involves: 129 * BALB/c * C57BL/6 * Swiss	MGI:3813714
hm2	Vdr^tm1.1Gcm/Vdr^tm1.1Gcm	involves: 129S1/Sv * 129X1/SvJ	MGI:3688157

Genotype
MGI:3813714

hm1

• Allelic Composition: Vdr^tm1.1Gcm/Vdr^tm1.1Gcm
• Genetic Background: involves: 129 * BALB/c * C57BL/6 * Swiss

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

digestive/alimentary system

decreased intestinal calcium absorption ( J:72578 )

• mice have a 3-fold lower ability to absorb calcium through the gut after being maintained on a low calcium diet

growth/size/body

decreased body weight ( J:72578 )

• mice weigh about 10% less than controls around 64 days of age

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:72578 )

• mean PTH levels in serum are 182 pg/ml compared to 17 pg/ml in wild-type controls

• a high calcium/lactose diet restores normal levels

decreased circulating calcium level ( J:72578 )

• mean serum calcium levels on a normal chow diet are 7.3 mg/dl compared to 10.1 in wild-type controls

• a high calcium/lactose diet restores normal levels

abnormal vitamin D level ( J:72578 )

• mean serum levels of the active form of vitamin D are 3,634 pg/ml compared to 57 pg/ml in wild-type mice

• a high calcium/lactose diet restores normal levels

skeleton

decreased bone mineral density ( J:72578 )

• mean femoral calcium levels are reduced by about 15%

• a high calcium/lactose diet restores normal levels

rickets ( J:72578 )

• is observed in these mice when fed a normal chow diet

Genotype
MGI:3688157

hm2

• Allelic Composition: Vdr^tm1.1Gcm/Vdr^tm1.1Gcm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

homeostasis/metabolism

decreased circulating calcium level ( J:111515 )

• sham-operated mice mutants are hypocalcemic

• lactating mutants on a high-calcium diet display hypocalcemia, while non lactating controls do not

abnormal vitamin D level ( J:111515 )

• sham-operated mice have elevated serum vitamin D levels

• vitamin D levels are doubled in Ovx mutant females

• in pregnant mutants, serum levels of vitamin D are decrease by 50% compared to mutant controls

abnormal urine homeostasis ( J:111515 )

• sham-operated mice show elevated collagen cross-links excretion

• ovarectomized (Ovx) wild-type mice show 2-fold increase in dexoxpyridinoline excretion, but this is unchanged in Ovx mutants

renal/urinary system

abnormal urine homeostasis ( J:111515 )

• sham-operated mice show elevated collagen cross-links excretion

• ovarectomized (Ovx) wild-type mice show 2-fold increase in dexoxpyridinoline excretion, but this is unchanged in Ovx mutants

reproductive system

decreased uterus weight ( J:111515 )

♀ • in Ovx female mutant and wild-type mice, uterine wet weight is significantly reduced compared to sham-operated animals

skeleton

decreased bone mineral density ( J:111515 )

• cortical bone density is moderately reduced in sham-operated mice and is significantly lower in mutant females with or without Ovx or pregnancy

• in ovarectomized (Ovx) wild-type females, trabecular bone density is reduced by 43%, but is unchanged in Ovx mutants

• trabecular bone density is increased in Ovx wild-type and mutant females after estradiol treatment; with pregnancy, trabecular bone density is increased by 36% in pregnant mutants and by 53% in pregnant wild-type

• on a high-calcium diet, there is a less marked reduction of cortical bone density in lactating mutant females (4% in lactating vs 10-13% in mutants on a normal diet); trabecular bone density is reduced in lactating mice

abnormal bone mineralization ( J:111515 )

• sham-operated mice have decreased bone calcium content

• in Ovx wild-type females show a 10% increase in femur calcium content with estradiol treatment and treated Ovx mutant females show a 20% increase

rickets ( J:111515 )

• sham-operated mutant mice show vitamin D-resistant rickets phenotype