Phenotypes associated with this allele

• Allele Symbol: Atp6v0d2^tm1Ywc
• Allele Name: targeted mutation 1, Yongwon Choi
• Allele ID: MGI:3698147
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp6v0d2^tm1Ywc/Atp6v0d2^tm1Ywc	involves: 129P2/OlaHsd * C57BL/6	MGI:3699103

Genotype
MGI:3699103

hm1

• Allelic Composition: Atp6v0d2^tm1Ywc/Atp6v0d2^tm1Ywc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

skeleton

abnormal osteoclast morphology ( J:117744 )

• osteoclasts are smaller and have less surface area than in controls

abnormal osteoclast differentiation ( J:117744 )

• 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

osteopetrosis ( J:117744 )

• increase in bone mass and concomitant decrease in bone marrow space

• cartilage remnants characteristic of osteopetrosis due to defective bone resorption are seen

decreased bone resorption ( J:117744 )

• 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

abnormal osteoclast morphology ( J:117744 )

• osteoclasts are smaller and have less surface area than in controls

abnormal osteoclast differentiation ( J:117744 )

• 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

abnormal osteoclast morphology ( J:117744 )

• osteoclasts are smaller and have less surface area than in controls

abnormal osteoclast differentiation ( J:117744 )

• 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

decreased circulating type I collagen C-terminal telopeptide level ( J:117744 )

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

cellular

abnormal osteoclast differentiation ( J:117744 )

• 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