Abstract
Mice which inherit osteopetrosis have several distinguishing features, depending upon the mutation and the background upon which it is expressed. Osteopetrotic mice tend to be smaller than normal littermates and are often runts of the litter. In all mutants, teeth fail to erupt and absence of incisors, the first teeth to erupt at 10 days, identifies the mutant genotype. For gl mice, the emergence of a gray hair coat without the usual yellow (agouti) tips at 7–8 days is diagnostic. Microphthalmic (mi) mice lack all pigment and the absence of retinal pigmentation at birth identifies this genotype (Fig. 299). The skeleton is grossly abnormal in mutants (Fig. 300), lacking the typical flared ends of long bones found in normal littermates (Fig. 301). These latter areas are sites of bone resorption (Fig. 302) not seen in mutants where bone formation predominates (Fig. 303). Thus, pathogenetic possibilities, reduced bone resorption, and increased bone formation (see below) are suggested by even a casual examination of external surfaces of the skeleton (Figs. 301–303). Facial growth is stunted in most mutants, producing a foreshortened snout. Hydrocephalus is occasionally found in op mice. Additional gross features of osteopetrotic mice include abnormal shape and reduced size of the teeth (Fig. 304) and a generalized radiopacity of the skeleton (Figs. 305, 306). Skeletal sclerosis is present at birth and the mutant genotype can be determined radiographically at any time postnatally.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Banco R, Seifert MF, Marks SC Jr, McGuire JL (1985) Rickets and osteopetrosis: the osteosclerosis (oc) mouse. Clin Orthop 201: 238–A246
Barnicot NA (1945) Some data on the effect of parathormone on the grey-lethal mouse. J Anat 79: 83–91
Kent GN, Cohn DV (1981) Blood levels of calcitonin in microphthalmic (mi/mi) osteopetrotic mouse cannot account for the resistance of bone to this hormone. Metab Bone Dis Rel at Res 3: 151a–153
Marks SC Jr (1977) Pathogenesis of osteopetrosis in the microphthalmic mouse: reduced bone resorption. Am J Anat 149: 269–275
Marks SC Jr (1982) Morphological evidence of reduced bone resorption (op) mice. Am J Anat 163: 157–167
Marks SC Jr (1984) Congenital osteopetrotic mutations as probes of the origin, structure and function of osteoclasts. Clin Orthop 189: 239–263
Marks SC Jr (1987) Osteopetrosis - multiple pathways for the interception of osteoclast function. Appl Pathol 5: 172–183
Marks SC Jr, Lane PW (1976) Osteopetrosis, a new recessive skeletal mutation on chromosome 12 of the mouse. J Hered 67: 11–18
Marks SC Jr, Walker DG (1969) The role of the parafollicular cell of the thyroid gland in the pathogenesis of congenital osteopetrosis in mice. Am J Anat 126: 299–313
Marks SC Jr, Walker DG (1976) Mammalian osteopetrosis: a model for studying cellular and humoral factors in bone resorption. In: Bourne G (ed) The biochemistry and physiology of bone, vol 4. Academic, New York, pp 227–301
Marks SC Jr, Walker DG (1981) The hematogenous origin of osteoclasts: experimental evidence from osteopetrotic (microphthalmic) mice treated with spleen cells from beige mouse donors. Am J Anat 161: 1–10
Marks SC Jr, Seifert MF, McGuire JL (1984) Congeni- tally osteopetrotic (op/op) mice are not cured by transplants of spleen or bone marrow cells from normal littermates. Metab Bone Dis Relat Res 5: 183–186
Marks SC Jr, Seifert MF, Fox RR (1986) The osteopetrotic rabbit - general and skeletal features of a new outbred stock. Bone 7: 359–364
Marks SC Jr, MacKay CA, Seifert MF (1987) The osteopetrotic rabbit - skeletal cytology and ultrastructure. Am J Anat 178: 300–307
Murphy HM (1972) Calcitonin-like activity in the circulation of osteopetrotic grey-lethal mice. J Endocrinol 53: 139–150
Murphy HM (1972) Calcitonin-like activity in the circulation of osteopetrotic grey-lethal mice. J Endocrinol 53: 139–150
Murphy HM (1973) The osteopetrotic syndrome in the microphthalmic mutant mouse. Calcif Tissue Res 13: 19–26
Raisz LG, Simmons HA, Gworek SC, Eilon G (1977) Studies on congenital osteopetrosis in microphthalmic mice using organ cultures: impairment of bone resorption to physiologic stimulators. J Exp Med 145: 857–865.
Seifert MF, Marks SC Jr (1985) Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse. Am J Anat 172: 141–153
Seifert MF, Marks SC Jr (1987) Congenitally osteosclerotic (oc/oc) mice are resistant to cure by transplantation of bone marrow or spleen cells from normal littermates. Tissue Cell 19: 29–37
Van Slyke MA, Marks SC Jr (1987) Failure of normal osteoclasts to resorb calcified cartilage from osteosclerotic (oc/oc) mice in vitro. Bone 8: 39–44
Walker DG (1966) Counteraction to parathyroid therapy in osteopetrotic mice as revealed in the plasma calcium level and ability ot incorporate 3H-proline into bone. Endocrinology 79: 836–842
Walker DG (1975a) Bone resorption restored in osteopetrotic mice by transplants of normal bone marrow and spleen cells. Science 190:784–785
Walker DG (1975b) Spleen cells transmit osteopetrosis in mice. Science 190: 785–787
Watchorn E (1938) Some biochemical data on the greylethal mouse. J Genet 36:171–176 Zerwekh JE, Marks SC Jr, McGuire JL (1987) Elevated serum 1,2,5-dihydroxy-vitamin D in osteopetrotic mutations in three species. Bone Mineral 2: 193–199
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Marks, S.C. (1991). Congenital Osteopetrosis, Mouse. In: Jones, T.C., Mohr, U., Hunt, R.D. (eds) Cardiovascular and Musculoskeletal Systems. Monographs on Pathology of Laboratory Animals. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76533-9_37
Download citation
DOI: https://doi.org/10.1007/978-3-642-76533-9_37
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-76535-3
Online ISBN: 978-3-642-76533-9
eBook Packages: Springer Book Archive