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Phenotypes Associated with This Genotype
Genotype
MGI:3699103
Allelic
Composition
Atp6v0d2tm1Ywc/Atp6v0d2tm1Ywc
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6v0d2tm1Ywc mutation (0 available); any Atp6v0d2 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• osteoclasts are smaller and have less surface area than in controls
• in vitro studies indicate that fusion of pre-osteoclasts to form large multi-nucleated mature osteoclasts is impaired while early steps in differentiation are unaffected
• increase in bone mass and concomitant decrease in bone marrow space
• cartilage remnants characteristic of osteopetrosis due to defective bone resorption are seen
• reduced serum levels of type 1 collagen cross-linked C terminal telopeptide indicating reduced bone resorption
• however, while the number of pits on dentine slices formed by mutant osteoclasts is reduced the area of individual pits is similar to wild-type

hematopoietic system
• osteoclasts are smaller and have less surface area than in controls
• in vitro studies indicate that fusion of pre-osteoclasts to form large multi-nucleated mature osteoclasts is impaired while early steps in differentiation are unaffected

immune system
• osteoclasts are smaller and have less surface area than in controls
• in vitro studies indicate that fusion of pre-osteoclasts to form large multi-nucleated mature osteoclasts is impaired while early steps in differentiation are unaffected

homeostasis/metabolism
• reduced serum levels of type 1 collagen cross-linked C terminal telopeptide indicating reduced bone resorption

cellular
• in vitro studies indicate that fusion of pre-osteoclasts to form large multi-nucleated mature osteoclasts is impaired while early steps in differentiation are unaffected


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
09/17/2024
MGI 6.24
The Jackson Laboratory