Phenotypes associated with this allele

• Allele Symbol: Cyp24a1^tm1Star
• Allele Name: targeted mutation 1, Rene St-Arnaud
• Allele ID: MGI:2182338
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp24a1^tm1Star/Cyp24a1^tm1Star	involves: 129S4/SvJae	MGI:3694742
cx2	Cyp24a1^tm1Star/Cyp24a1^tm1Star Vdr^tm1Mbd/Vdr^tm1Mbd	involves: 129S4/SvJae	MGI:3694743

Genotype
MGI:3694742

hm1

• Allelic Composition: Cyp24a1^tm1Star/Cyp24a1^tm1Star
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

postnatal lethality ( J:56453 )

• about 50% of homozygotes die before weaning

growth/size/body

decreased body size ( J:63457 )

• seen in animals that die before weaning

skeleton

abnormal bone ossification ( J:56453 )

• from homozygous mothers, pups show unmineralized osteoid matrix accumulating at sites of intra-membranous ossifications, calvaria, mandible, clavicle, periosteal bone of long bones

• osteogenesis is normal in homozygous pups from heterozygous mothers

• supplementation of homozygous mothers with 24R,25 dihydroxyvitamin D results in normal calvaria and periosteal bone in pups, mandible and clavicle remain abnormal

homeostasis/metabolism

increased circulating calcium level ( J:63457 )

• extreme hypercalcemia seen in runted animals that die before weaning

• pregnant homozygous females develop hypercalcemia

abnormal vitamin D level ( J:63457 )

• lower than normal circulating levels of 1,25 dihydroxyvitamin D, deficient clearance

• elevated levels of 1,25 dihydroxyvitamin D in pregnant females

increased urine calcium level ( J:63457 )

• pregnant homozygous females develop hypercalciuria

renal/urinary system

increased urine calcium level ( J:63457 )

• pregnant homozygous females develop hypercalciuria

abnormal kidney morphology ( J:63457 )

• mineralization and necrosis develops after chronic administration of 1,25 dihydroxyvitamin D

dilated renal tubule ( J:63457 )

• cortical tubular dilation develops after chronic administration of 1,25 dihydroxyvitamin D

reproductive system

reproductive system phenotype ( J:63457 )

N • mice surviving to adulthood are fertile

Genotype
MGI:3694743

cx2

• Allelic Composition: Cyp24a1^tm1Star/Cyp24a1^tm1Star; Vdr^tm1Mbd/Vdr^tm1Mbd
• Genetic Background: involves: 129S4/SvJae

skeleton

skeleton phenotype ( J:63457 )

N • abnormalities in membranous bone formation seen in Cyp24a1^tm1Star are rescued in double homozygotes