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Phenotypes Associated with This Genotype
Genotype
MGI:6297005
Allelic
Composition
Tg(Col1a1-FGF2*,-Sapphire)203Mmh/Tg(Col1a1-FGF2*,-Sapphire)203Mmh
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• dwarfism
• 21 day old mice fed a high phosphate diet for 4 weeks show a partial reversal of the dwarfism

hematopoietic system
• osteoclast number/bone surface is increased by 190% in L3 vertebrae

homeostasis/metabolism
• 86% increase in serum parathyroid hormone levels
• however, no difference in serum 1,25-(OH2)-vitamin D levels which could be considered low in the presence of hypophosphatemia and increased parathyroid hormone levels
• low serum phosphate levels
• however, serum calcium levels are normal
• mice fed a high phosphate diet for 4 weeks show an increase in serum phosphate levels
• serum FGF23 levels are increased on a normal diet and further increased after feeding a high phosphate diet
• serum c-terminal telopeptide of type 1 collagen levels are higher, indicating bone resorption
• urinary phosphate/g creatinine is increased by 71%

immune system
• osteoclast number/bone surface is increased by 190% in L3 vertebrae
• 18 month old mice exhibit joint destruction, characterized by osteophyte formation, sclerotic bone development, and narrowing of the patellofemoral space
• knees show pitting, erosion, and deterioration, with increased intensity with age

limbs/digits/tail
• 2 month old knee joints show flattening of the tibial plateau and thinning of femoral subchondral bone is seen in 2 and 8 month old knee joints

skeleton
• osteoclast number/bone surface is increased by 190% in L3 vertebrae
• 18 month old mice exhibit joint destruction, characterized by osteophyte formation, sclerotic bone development, and narrowing of the patellofemoral space
• knees show pitting, erosion, and deterioration, with increased intensity with age
• 2 month old knee joints show flattening of the tibial plateau and thinning of femoral subchondral bone is seen in 2 and 8 month old knee joints
• mice show a widened and largely disorganized growth plate
• epiphyses of 8 month old mice show modifications of the trabecular architecture
• the bone volume/total volume of the epiphysis is decreased in both the femur and tibia by 35% and 11%, respectively, at 2 months of age and by 42% and 27%
• shortened misshaped hypolucent bones
• bone mineral density of the L3 vertebra is decreased by 13%
• mice fed a high phosphate diet for 4 weeks show increased bone mineral density to normal levels
• bone mineral content is decreased by 26%
• mice fed a high phosphate diet for 4 weeks show increased bone mineral content to normal levels
• bone volume/total volume is decreased by 72%
• 60% reduction in bone volume/total volume in the L3 vertebrae
• platelike structure of the trabecular bone is decreased
(J:159949)
• femur shows a 17% and 25% decrease in trabecular number at 2 months and 8 months of age, respectively (J:240777)
(J:159949)
• femur shows a 16% and 32% increase in trabecular spacing at 2 months and 8 months of age, respectively (J:240777)
• trabecular thickness is decreased by 15% (J:159949)
• trabecular thickness of the epiphysis is decreased in the femur and tibia by 16% and 11%, respectively, at 2 months of age (J:240777)
• decreased bone mass is due to both decreased bone formation and increased bone resorption
• osteophyte formation, mainly on the posterior tibiae, is seen in 8 month old knee joints and osteophytes are present in 18 month old knees
• mice exhibit a decrease in articular cartilage thickness and proteoglycan content in knees
• tibial articular cartilage thickness is decreased by 56% and 62% in 8 month and 18 month old mice, respectively
• the mineral apposition rate is decreased by 14% in L3 vertebrae
• L3 vertebrae show decreased mineralized trabeculae
• osteoblast surface/bone surface is reduced by 54% in L3 vertebrae
• mineralizing surface/bone surface, bone formation rate/bone surface, and interlabel thickness are decreased by 23, 27, and 14%, respectively, in L3 vertebrae
• osteoclast surface is increased by 179% in L3 vertebrae
• serum c-terminal telopeptide of type 1 collagen levels are higher, indicating bone resorption

renal/urinary system
• urinary phosphate/g creatinine is increased by 71%

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked dominant hypophosphatemic rickets DOID:0050445 OMIM:307800
J:240777


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory