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Mild osteopetrosis in the microphthalmia-oak ridge mouse. A model for intermediate autosomal recessive osteopetrosis in humans



Mild osteopetrosis in the microphthalmia-oak ridge mouse. A model for intermediate autosomal recessive osteopetrosis in humans



American Journal of Pathology 147(6): 1871-1882



Mutations at the mouse microphthalmia (mi) locus affect coat color, eye development, and mast cells. The original allele, mi also shows severe osteopetrosis. Mice homozygous for the microphthalmia-Oak Ridge (Mi-or) mutation are white, microphthalmic animals with retarded incisor development. To investigate whether this mutation causes osteopetrosis, we examined skeletal tissues of the Mi-or mouse. A typical osteopetrotic lesion, accumulation of unresorbed primary spongiosa, was found at the metaphyses of long bones and at the costochondral junctions in Mi-or/Mi-or mice from 10 days to 37 days of age, whereas no accumulation was seen at the mid-diaphyses in these bones. The osteopetrotic conditions of Mi-or/Mi-or mice increased progressively during the first 5 weeks after birth. However, adult Mi-or/Mi-or mice 3 months or older showed improvement of the osteopetrotic condition, although the disease was not completely resolved. Ultrastructurally, osteoclasts of Mi-or/ Mi-or mice had well developed ruffled borders. These results show that the Mi-or mutation has milder osteopetrotic changes than the original mi mutation, a surprising observation given that both mutations affect the same functional domain of the mi protein, a basic-Helix-Loop-Helix-Zipper transcription factor. The Mi-or phenotype resembles the intermediate autosomal recessive osteopetrosis in humans.

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Accession: 009025288

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PMID: 7495310



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