Phenotypes associated with this allele

• Allele Symbol: Vdr^tm1Rge
• Allele Name: targeted mutation 1, Reinhold G Erben
• Allele ID: MGI:2183400
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vdr^tm1Rge/Vdr^tm1Rge	B6.129-Vdr^tm1Rge	MGI:3851341
hm2	Vdr^tm1Rge/Vdr^tm1Rge	involves: 129S1/Sv * 129X1/SvJ	MGI:3851336
hm3	Vdr^tm1Rge/Vdr^tm1Rge	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3851347
cx4	Fgf23^tm1Blan/Fgf23^tm1Blan Vdr^tm1Rge/Vdr^tm1Rge	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3851339

Genotype
MGI:3851341

hm1

• Allelic Composition: Vdr^tm1Rge/Vdr^tm1Rge
• Genetic Background: B6.129-Vdr^tm1Rge

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

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:121006 )

• PTH levels are elevated (113 pg/ml) in these 4 week old mice when fed a high calcium diet

• mice fed a normal diet have PTH levels that are almost 10-fold higher

decreased circulating phosphate level ( J:121006 )

• 4 week old mice have reduced serum phosphorous levels when fed a high calcium diet

increased circulating alkaline phosphatase level ( J:121006 )

• 4 week old mice have elevated levels of serum alkaline phosphatase when fed a high calcium diet

skeleton

decreased bone mineral density ( J:121006 )

• mice have slightly reduced cortical bone mineral density

integument

epidermal cyst ( J:121006 )

• epidermal cysts are noticeable at 4 weeks of age

growth/size/body

epidermal cyst ( J:121006 )

• epidermal cysts are noticeable at 4 weeks of age

Genotype
MGI:3851336

hm2

• Allelic Composition: Vdr^tm1Rge/Vdr^tm1Rge
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

growth/size/body

slow postnatal weight gain ( J:77748 )

• after weaning, mice have lower bodyweight than controls

endocrine/exocrine glands

increased activity of parathyroid ( J:77748 )

• mice suffer from secondary hyperparathyroidism during the rapid growth phase at 10 weeks of age

skeleton

rickets ( J:77748 )

• 10 week old mice have rickets including thickened and irregular growth plates, altered shape of epiphysis, thin and deeply eroded cortical bone

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:77748 )

• PTH levels are slightly elevated in these mice except during the rapid growth phase at 10 weeks of age when mice have very high levels of PTH

decreased circulating calcium level ( J:77748 )

• serum calcium levels are slightly lower than controls except during the rapid growth phase at 10 weeks of age where mice are extremely hypocalcemic

abnormal vitamin D level ( J:77748 )

• serum levels of the active form of vitamin D (1alpha25, dihydroxyvitamin D3) are almost 20-fold higher than controls

increased urine calcium level ( J:77748 )

• mice fed a high calcium rescue diet have higher levels of calcium excretion than diet-matched controls

abnormal response to vitamins ( J:77748 )

• mice fail to increase serum calcium levels, suppress PTH levels, and erode cancellous bone in response to vitamin D compounds

renal/urinary system

increased urine calcium level ( J:77748 )

• mice fed a high calcium rescue diet have higher levels of calcium excretion than diet-matched controls

integument

alopecia ( J:77748 )

• mice develop progressive alopecia starting at 6-8 weeks of age

• mice have almost lost all hair by 4 months of age

Genotype
MGI:3851347

hm3

• Allelic Composition: Vdr^tm1Rge/Vdr^tm1Rge
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

homeostasis/metabolism

abnormal nitric oxide homeostasis ( J:134827 )

• the active form of vitamin D fails to suppress NO production by macrophages during an inflammatory response

immune system

abnormal macrophage physiology ( J:134827 )

• the active form of vitamin D does not suppress IFN-gamma mediated killing of the intracellular protozoan Leishmania major as it does in wild-type macrophages

decreased susceptibility to parasitic infection ( J:134827 )

• mice are resistant to infection with the the intracellular protozoan Leishmania major

• 3 weeks after L.major infection into the footpad, swelling is half that of wild-type controls

• lesions contain 300-fold less parasites than control mice 8 weeks after infection

• 30% of mice have completely eliminated infection by 8 weeks compared to none of the wild-type controls

hematopoietic system

abnormal macrophage physiology ( J:134827 )

• the active form of vitamin D does not suppress IFN-gamma mediated killing of the intracellular protozoan Leishmania major as it does in wild-type macrophages

Genotype
MGI:3851339

cx4

• Allelic Composition: Fgf23^tm1Blan/Fgf23^tm1Blan; Vdr^tm1Rge/Vdr^tm1Rge
• Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:121006 )

N • the homozygous null VDR alleles almost negate the perturbed mineral homeostasis characteristic of mice with homozygote null Fgf23 alleles

increased circulating parathyroid hormone level ( J:121006 )

• PTH levels are elevated (86 pg/ml) in these 4 week old mice fed a high calcium diet

increased circulating alkaline phosphatase level ( J:121006 )

• 4 week old mice have elevated levels of serum alkaline phosphatase compared to wild-type mice

integument

epidermal cyst ( J:121006 )

• epidermal cysts are noticeable at 4 weeks of age

growth/size/body

epidermal cyst ( J:121006 )

• epidermal cysts are noticeable at 4 weeks of age