Phenotypes associated with this allele

• Allele Symbol: Vdr^tm2.1Ska
• Allele Name: targeted mutation 2.1, Shigeaki Kato
• Allele ID: MGI:5501514
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vdr^tm2.1Ska/Vdr^tm2.1Ska	involves: C57BL/6 * CBA/JNCrlj * SJL	MGI:5501521
ht2	Vdr^tm2.1Ska/Vdr^+	involves: C57BL/6 * CBA/JNCrlj * SJL	MGI:5501522

Genotype
MGI:5501521

hm1

• Allelic Composition: Vdr^tm2.1Ska/Vdr^tm2.1Ska
• Genetic Background: involves: C57BL/6 * CBA/JNCrlj * SJL

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

mortality/aging

premature death ( J:196471 )

• mice die within 15 weeks of birth in mice fed a normal calcium diet

• however, high-calcium diets prevent lethality

skeleton

disorganized long bone epiphyseal plate ( J:196471 )

increased osteoid volume ( J:196471 )

abnormal bone ossification ( J:196471 )

• impaired bone formation

homeostasis/metabolism

decreased circulating calcium level ( J:196471 )

decreased circulating phosphate level ( J:196471 )

abnormal vitamin D level ( J:196471 )

• elevated serum levels of 1,25(OH)2D

growth/size/body

weight loss ( J:196471 )

• debilitated by weight loss after 9 weeks

postnatal growth retardation ( J:196471 )

integument

alopecia ( J:196471 )

endocrine/exocrine glands

increased activity of parathyroid ( J:196471 )

• secondary

Genotype
MGI:5501522

ht2

• Allelic Composition: Vdr^tm2.1Ska/Vdr⁺
• Genetic Background: involves: C57BL/6 * CBA/JNCrlj * SJL

skeleton

increased bone mineral density ( J:196471 )

increased trabecular bone volume ( J:196471 )

increased bone mass ( J:196471 )

• at 18 weeks without overt rachitic abnormalities