The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.

doi:10.1016/s8756-3282(99)00278-1

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Article

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.

Bone - 1 Mar 2000

Scimeca J C, Franchi A, Trojani C, Parrinello H, Grosgeorge J, Robert C, Jaillon O, Poirier C, Gaudray P, Carle G F

Abstract excerpt

Osteosclerosis (oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in affected mice. Genetic mapping of the oc mutation was used as a backbone in a positional cloning approach in the pericentromeric region of mouse chromosome 19. Perfect cosegregation of the osteopetrotic phenotype with polymorphic markers enabled the...

Topics

Amino Acid Sequence
Animals
Base Sequence
Chromosomes, Artificial, Yeast
DNA Primers
Humans
In Situ Hybridization, Fluorescence
Mice
Mice, Mutant Strains
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Osteoclasts

Osteosclerosis

Proton-Translocating ATPases

Reverse Transcriptase Polymerase Chain Reaction

Sequence Deletion

Sequence Homology, Amino Acid

Vacuolar Proton-Translocating ATPases

Source

Open in PubMed

Identifiers

PMID: 10709991
DOI: 10.1016/s8756-3282(99)00278-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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