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Phenotypes Associated with This Genotype
Genotype
MGI:5694692
Allelic
Composition
Dmp1tm1Mis/Dmp1tm1Mis
Genetic
Background
involves: 129S7/SvEvBrd * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmp1tm1Mis mutation (0 available); any Dmp1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• delay in blood vessel formation in bones at E11
• mice injected with anti-Fgf23 antibodies show rescue of the delay

homeostasis/metabolism
• severe hypophosphatemia (J:115339)
• mice injected with anti-Fgf23 antibodies show restoration of phosphate levels (J:184352)
• elevation in serum Fgf23 levels

cellular
• osteoblasts continuously express osteoblast-specific genes and fail to differentiate into mature osteocytes

renal/urinary system
• increase in renal phosphorous clearance

skeleton
• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally
• expansion of the metaphysis
• abnormalities in cortical bone
• mice treated with anti-Fgf13 antibodies show improvement in cortical bone abnormalities
• increase in accumulation of trabecular bone in the bone marrow space
• marker analysis indicates defective osteoblast-to-osteocyte differentiation and osteocyte maturation
• defective organization of osteocyte lacunae and lacunocanalicular walls
• osteocyte lacunae are larger and randomly oriented
• the inner lacunocanalicular wall is buckled and enlarged rather than smooth in the poorly mineralized matrix, unmineralized collagen fibrils are seen, the lamina limitans is absent, and the membrane surface is buckled and irregular
• osteoblasts continuously express osteoblast-specific genes and fail to differentiate into mature osteocytes
• mice exhibit defects in bone mineralization showing diffuse, osteomalacic form of mineralization; develops with age
• mineral content is either missing or sparsely located in regions surrounding osteocytes
• spherical structures reminiscent of calculospherulites are present
• mice develop rickets with age, showing, showing flared ends of long bones and rachitic rosary of the ribs
• high-phosphate diet rescues the rickets but not the osteomalacia
• delay in formation of secondary ossification centers that is mainly due to hypophosphatemia
• mice injected with anti-Fgf23 antibodies show rescue of secondary ossification defects in vertebrae and femoral bone
• cartilage is remodeled less in 3 day old forelimbs than in controls
• mice at 1 year of age show development of large bony protuberances in all bones, suggesting abnormal bone remodeling processes with age
• bone remodeling abnormalities are due to altered osteoblast function and a reduction of the number of osteoclasts

hematopoietic system
• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally

immune system
• the number of osteoclasts formed in bone marrow cultures in the presence of 1,25-(OH)2D3 is less than 50% of that in control
• marker analysis indicates a reduction in osteoclasts in long bone in both the epiphysis and metaphysis at 2 weeks of age
• however, the number of osteoclasts formed by spleen cells is normal, indicating that osteoclast precursors can differentiate normally
• delay in bone marrow formation at E11
• mice injected with anti-Fgf23 antibodies show accelerated bone marrow formation in the femur epiphysis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive hypophosphatemic rickets DOID:0050949 OMIM:241520
OMIM:613312
J:184352


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/09/2018
MGI 6.11
The Jackson Laboratory