Phenotypes associated with this allele

• Allele Symbol: Gc^tm1Nec
• Allele Name: targeted mutation 1, Nancy E Cooke
• Allele ID: MGI:2176841
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gc^tm1Nec/Gc^tm1Nec	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3640601

Genotype
MGI:3640601

hm1

• Allelic Composition: Gc^tm1Nec/Gc^tm1Nec
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

homeostasis/metabolism

abnormal vitamin D level ( J:52225 )

• lower total serum levels of 25(OH)vitamin D and 1,25(OH)2D

• half life of vitamin D in the serum is markedly reduced

• 3X more vitamin D is excreted in the urine

• more rapid vitamin D metabolism

• faster uptake of vitamin D by the liver

• reduced toxic effects of excessive vitamin D

endocrine/exocrine glands

increased activity of parathyroid ( J:52225 )

• parathyroid hormone levels doubled on a vitamin D deficient diet

skeleton

abnormal bone mineralization ( J:52225 )

• lower mineral apposition rate and mineralizing surface to bone surface ratio on a vitamin D deficient diet

abnormal bone remodeling ( J:52225 )

• osteoid surface to bone surface ratio significantly higher on a vitamin D deficient diet

• thickened osteoid seams on a vitamin D deficient diet

abnormal osteoblast physiology ( J:52225 )

• abnormally high osteoblast activity but under mineralization of newly synthesized matrix

cellular

abnormal osteoblast physiology ( J:52225 )

• abnormally high osteoblast activity but under mineralization of newly synthesized matrix