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The following is the latest addition to the Genetically Modified Animals in Endocrinology Bibliography Project. To see earlier segments of this project and links to other useful sources, go to http://www.endo-society.org/journals/bibliographies.cfm
Please send your comments, suggestions, and offerings of other relevant citations to this e-mail address: ERKO{at}endo-society.org
Knockout Mouse Models for Bone Studies 1
Bone Morphogentic Proteins
Dunn NR, Winnier GE, Hargett LK, Schrick JJ, Fogo AB, Hogan BL 1997 Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. Dev Biol 88:235–247
Bailon-Plaza A, Lee AO, Veson EC, Farnum CE, van der Meulen MC 1999 BMP-5 deficiency alters chondrocytic activity in the mouse proximal tibial growth plate. Bone 24:211–216
Jena N, Martin-Seisdedos C, McCue P, Croce CM 1997 BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye. Exp Cell Res 230:28–37
Dudley AT, Robertson EJ 1997 Overlapping expression domains of bone morphogenetic protein family members potentially account for limited tissue defects in BMP7 deficient embryos. Dev Dyn 208:349–362
Smad Family
Borton AJ, Frederick JP, Datto MB, Wang XF, Weinstein RS 2001 The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis. J Bone Miner Res 16:1754–1764
Chang H, Huylebroeck D, Verschueren K, Guo Q, Matzuk MM, Zwijsen A 1999 Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects. Development 126:1631–1642
TGFß Family
Hamrick MW, McPherron AC, Lovejoy CO 2002 Bone mineral content and density in the humerus of adult myostatin-deficient mice. Calcif Tissue Int 71:63–68
Calcitonin
Hoff AO, Catala-Lehnen P, Thomas PM, Priemel M, Rueger JM, Nasonkin I, Bradley A, Hughes MR, Ordonez N, Cote GJ, Amling M, Gagel RF 2002 Increased bone mass is an unexpected phenotype associated with deletion of the calcitonin gene. J Clin Invest 110:1849–1857
PTH
Miao D, He B, Karaplis AC, Goltzman D 2002 Parathyroid hormone is essential for normal fetal bone formation. J Clin Invest 109:1173–1182
Kitahara Y, Suda N, Kuroda T, Beck F, Hammond VE, Takano Y 2002 Disturbed tooth development in parathyroid hormone-related protein (PTHrP)-gene knockout mice. Bone 30:48–56
Suda N, Baba O, Udagawa N, Terashima T, Kitahara Y, Takano Y, Kuroda T, Senior PV, Beck F, Hammond VE 2001 Parathyroid hormone-related protein is required for normal intramembranous bone development. J Bone Miner Res 16:2182–2191
Lanske B, Amling M, Neff L, Guiducci J, Baron R, Kronenberg HM 1999 Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development. J Clin Invest 104:399–407
TNF Family/Osteoprotegerin
Mizuno A, Amizuka N, Irie K, Murakami A, Fujise N, Kanno T, Sato Y, Nakagawa N, Yasuda H, Mochizuki S, Gomibuchi T, Yano K, Shima N, Washida N, Tsuda E, Morinaga T, Higashio K, Ozawa H 1998 Severe osteoporosis in mice lacking osteoclastogenesis inhibitory factor/osteoprotegerin. Biochem Biophys Res Commun 247:610–615
Bucay N, Sarosi I, Dunstan CR, Morony S, Tarpley J, Capparelli C, Scully S, Tan HL, Xu W, Lacey DL, Boyle WJ, Simonet WS 1998 Osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 12:1260–1268
Fata JE, Kong YY, Li J, Sasaki T, Irie-Sasaki J, Moorehead RA, Elliott R, Scully S, Voura EB, Lacey DL, Boyle WJ, Khokha R, Penninger JM 2000 The osteoclast differentiation factor osteoprotegerin-ligand is essential for mammary gland development. Cell 103:41–50
Lomaga MA, Yeh WC, Sarosi I, Duncan GS, Furlonger C, Ho A, Morony S, Capparelli C, Van G, Kaufman S, van der Heiden A, Itie A, Wakeham A, Khoo W, Sasaki T, Cao Z, Penninger JM, Paige CJ, Lacey DL, Dunstan CR, Boyle WJ, Goeddel DV, Mak TW 1999 TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev 13:1015–1024
Naito A, Azuma S, Tanaka S, Miyazaki T, Takaki S, Takatsu K, Nakao K, Nakamura K, Katsuki M, Yamamoto T, Inoue J 1999 Severe osteopetrosis, defective interleukin-1 signalling and lymph node organogenesis in TRAF6-deficient mice. Genes Cells 4:353–362
Yamashita T, Okada S, Higashio K, Nabeshima Y, Noda M 2002 Double mutations in klotho and osteoprotegerin gene loci rescued osteopetrotic phenotype. Endocrinology 143:4711–4717
Osteopontin
Liaw L, Birk DE, Ballas CB, Whitsitt JS, Davidson JM, Hogan BL 1998 Altered wound healing in mice lacking a functional osteopontin gene (spp1). J Clin Invest 101:1468–1478
Boskey AL, Spevak L, Paschalis E, Doty SB, McKee MD 2002 Osteopontin deficiency increases mineral content and mineral crystallinity in mouse bone. Calcif Tissue Int 71:145–514 (Epub 2002 Jun 20)
Kitahara K, Ishijima M, Rittling SR, Tsuji K, Kurosawa H, Nifuji A, Denhardt DT, Noda M 2003 Osteopontin deficiency induces parathyroid hormone enhancement of cortical bone formation. Endocrinology 144:2132–2140
Yoshitake H, Rittling SR, Denhardt DT, Noda M 1999 Osteopontin-deficient mice are resistant to ovariectomy-induced bone resorption. Proc Natl Acad Sci USA [Erratum (1999) 96:10944] 96:8156–8160
NF-
B
Franzoso G, Carlson L, Xing L, Poljak L, Shores EW, Brown KD, Leonardi A, Tran T, Boyce BF, Siebenlist U 1997 Requirement for NF-B in osteoclast and B-cell development. Genes Dev 11:3482–3496
Iotsova V, Caamano J, Loy J, Yang Y, Lewin A, Bravo R 1997 Osteopetrosis in mice lacking NF-B1 and NF-B2. Nat Med 3:1285–1289
Xing L, Carlson L, Story B, Tai Z, Keng P, Siebenlist U, Boyce BF 2003 Expression of either NF-B p50 or p52 in osteoclast precursors is required for IL-1-induced bone resorption. J Bone Miner Res 18:260–269
Estrogen Receptor/Androgen Receptor
Sims NA, Dupont S, Krust A, Clement-Lacroix P, Minet D, Resche-Rigon M, Gaillard-Kelly M, Baron R 2002 Deletion of estrogen receptors reveals a regulatory role for estrogen receptors-ß in bone remodeling in females but not in males. Bone 30:18–25
Windahl SH, Hollberg K, Vidal O, Gustafsson JA, Ohlsson C, Andersson G 2001 Female estrogen receptor ß-/- mice are partially protected against age-related trabecular bone loss. J Bone Miner Res 16:1388–1398
Lindberg MK, Alatalo SL, Halleen JM, Mohan S, Gustafsson JA, Ohlsson C 2001 Estrogen receptor specificity in the regulation of the skeleton in female mice. J Endocrinol 171: 229–236
Yeh S, Tsai MY, Xu Q, Mu XM, Lardy H, Huang KE, Lin H, Yeh SD, Altuwaijri S, Zhou X, Xing L, Boyce BF, Hung MC, Zhang S, Gan L, Chang C, Hung MC 2002 Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues. Proc Natl Acad Sci USA [Erratum (2002) 99:15245] 99:13498–13503 (Epub 2002 Oct 07)
Vitamin D
Yoshizawa T, Handa Y, Uematsu Y, Takeda S, Sekine K, Yoshihara Y, Kawakami T, Arioka K, Sato H, Uchiyama Y, Masushige S, Fukamizu A, Matsumoto T, Kato S 1997 Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat Genet 16:391–396
Yagishita N, Yamamoto Y, Yoshizawa T, Sekine K, Uematsu Y, Murayama H, Nagai Y, Krezel W, Chambon P, Matsumoto T, Kato S 2001 Aberrant growth plate development in VDR/RXR 
double null mutant mice. Endocrinology 142:5332–5341
Safadi FF, Thornton P, Magiera H, Hollis BW, Gentile M, Haddad JG, Liebhaber SA, Cooke NE 1999 Osteopathy and resistance to vitamin D toxicity in mice null for vitamin D binding protein. J Clin Invest 103:239–251
Panda DK, Miao D, Tremblay ML, Sirois J, Farookhi R, Hendy GN, Goltzman D 2001 Targeted ablation of the 25-hydroxyvitamin D 1
-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci USA 98:7498–7503
St-Arnaud R, Dardenne O, Prud’homme J, Hacking SA, Glorieux FH 2003 Conventional and tissue-specific inactivation of the 25-hydroxyvitamin D-1-hydroxylase (CYP27B1). J Cell Biochem 88:245–251
Leheste JR, Melsen F, Wellner M, Jansen P, Schlichting U, Renner-Muller I, Andreassen TT, Wolf E, Bachmann S, Nykjaer A, Willnow TE 2003 Hypocalcemia and osteopathy in mice with kidney-specific megalin gene defect. FASEB J 17:247–249 (Epub 2002 Dec 03)
Phosphatases
Suter A, Everts V, Boyde A, Jones SJ, Lullmann-Rauch R, Hartmann D, Hayman AR, Cox TM, Evans MJ, Meister T, von Figura K, Saftig P 2001 Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice. Development 128:4899–4910
Narisawa S, Frohlander N, Millan JL 1997 Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn 208:432–446
Tesch W, Vandenbos T, Roschgr P, Fratzl-Zelman N, Klaushofer K, Beertsen W, Fratzl P 2003 Orientation of mineral crystallites and mineral density during skeletal development in mice deficient in tissue nonspecific alkaline phosphatase. J Bone Miner Res 18:117–125
Cathepsin K
Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K 1998 Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci USA 95:13453–13458
Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, Bertoncello I, Drake F, Zavarselk S, Tellis I, Hertzog P, Debouck C, Kola I 1999 Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 14:1654–1663
Prolactin
Heiman ML, Tinsley FC, Mattison JA, Hauck S, Bartke A 2003 Body composition of prolactin-, growth hormone, and thyrotropin-deficient Ames dwarf mice. Endocrine 20:149–154
Clement-Lacroix P, Ormandy C, Lepescheux L, Ammann P, Damotte D, Goffin V,Bouchard B, Amling M, Gaillard-Kelly M, Binart N, Baron R, Kelly PA 1999 Osteoblasts are a new target for prolactin: analysis of bone formation in prolactin receptor knockout mice. Endocrinology 140:96–105
Prostaglandin
Li X, Okada Y, Pilbeam CC, Lorenzo JA, Kennedy CR, Breyer RM, Raisz LG 2000 Knockout of the murine prostaglandin EP2 receptor impairs osteoclastogenesis in vitro. Endocrinology 141:2054–2061
Akhter MP, Cullen DM, Gong G, Recker RR 2001 Bone biomechanical properties in prostaglandin EP1 and EP2 knockout mice. Bone 29:121–125
Extra Cellular Matrix/Cartilage
Gowen LC, Petersen DN, Mansolf AL, Qi H, Stock JL, Tkalcevic GT, Simmons HA, Crawford DT, Chidsey-Frink KL, Ke HZ, McNeish JD, Brown TA 2003 Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass. J Biol Chem 278:1998–2007 (Epub 2002 Nov 05)
Vu TH, Shipley JM, Bergers G, Berger JE, Helms JA, Hanahan D, Shapiro SD, Senior RM, Werb Z 1998 MMP-9/gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chondrocytes. Cell 93:411–422
Sahlman J, Inkinen R, Hirvonen T, Lammi MJ, Lammi PE, Nieminen J, Lapvetelainen T, Prockop DJ, Arita M, Li SW, Hyttinen MM, Helminen HJ, Puustjarvi K 2001 Premature vertebral endplate ossification and mild disc degeneration in mice after inactivation of one allele belonging to the Col2a1 gene for Type II collagen. Spine 26:2558–2565
Rosati R, Horan GS, Pinero GJ, Garofalo S, Keene DR, Horton WA, Vuorio E, de Crombrugghe B, Behringer RR 1994 Normal long bone growth and development in type X collagen-null mice. Nat Genet 8:129–135
Brunet LJ, McMahon JA, McMahon AP, Harland RM 1998 Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280:1455–1457
Long F, Zhang XM, Karp S, Yang Y, McMahon AP 2001 Genetic manipulation of hedgehog signaling in the endochondral skeleton reveals a direct role in the regulation of chondrocyte proliferation. Development 128:5099–5108
Chellaiah M, Kizer N, Silva M, Alvarez U, Kwiatkowski D, Hruska KA 2000 Gelsolin deficiency blocks podosome assembly and produces increased bone mass and strength. J Cell Biol 148:665–678
Development
Orestes-Cardoso S, Nefussi JR, Lezot F, Oboeuf M, Pereira M, Mesbah M, Robert B, Berdal A 2002 Msx1 is a regulator of bone formation during development and postnatal growth: in vivo investigations in a transgenic mouse model. Connect Tissue Res 43:153–160
Satokata I, Ma L, Ohshima H, Bei M, Woo I, Nishizawa K, Maeda T, Takano Y, Uchiyama M, Heaney S, Peters H, Tang Z, Maxson R, Maas R 2000 Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 24:391–395
Sowa H, Kaji H, Canaff L, Hendy GN, Tsukamoto T, Yamaguchi T, Miyazono K, Sugimoto T, Chihara K 2003 Inactivation of menin, the product of the multiple endocrine neoplasia type 1 gene, inhibits the commitment of multipotential mesenchymal stem cells into the osteoblast lineage. J Biol Chem 278:21058–21069 (Epub 2003 Mar 20)
Kim IS, Otto F, Zabel B, Mundlos S 1999 Regulation of chondrocyte differentiation by Cbfa1. Mech Dev 80:159–170
Watanabe H, Yamada Y 1999 Mice lacking link protein develop dwarfism and craniofacial abnormalities. Nat Genet 21:225–229
Takagi T, Moribe H, Kondoh H, Higashi Y 1998 DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages. Development 125:21–31
Wang WF, Wang YG, Reginato AM, Plotkina S, Gridley T, Olsen BR 2002 Growth defect in Grg5 null mice is associated with reduced Ihh signaling in growth plates. Dev Dyn 224:79–89
Kato M, Patel MS, Levasseur R, Lobov I, Chang BH, Glass 2nd DA, Hartmann C, Li L, Hwang TH, Brayton CF, Lang RA, Karsenty G, Chan L 2002 Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 157:303–314
Miscellaneous
Yoshida H, Hayashi S, Kunisada T, Ogawa M, Nishikawa S, Okamura H, Sudo T, Shultz LD, Nishikawa S 1990 The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature 345:442–444
Zhang M, Xuan S, Bouxsein ML, von Stechow D, Akeno N, Faugere MC, Malluche H, Zhao G, Rosen CJ, Efstratiadis A, Clemens TL 2002 Osteoblast-specific knockout of the insulin-like growth factor (IGF) receptor gene reveals an essential role of IGF signaling in bone matrix mineralization. J Biol Chem 277:44005–44012 (Epub 2002 Sep 04)
Bikle D, Majumdar S, Laib A, Powell-Braxton L, Rosen C, Beamer W, Nauman E, Leary C, Halloran B 2001 The skeletal structure of insulin-like growth factor I-deficient mice. J Bone Miner Res 16:2320–2329
Gupta A, Tenenhouse HS, Hoag HM, Wang D, Khadeer MA, Namba N, Feng X, Hruska KA 2001 Identification of the type II Na(+)-Pi cotransporter (Npt2) in the osteoclast and the skeletal phenotype of Npt2-/- mice. Bone 2001 29:467–476
Garner SC, Pi M, Tu Q, Quarles LD 2001 Rickets in cation-sensing receptor-deficient mice: an unexpected skeletal phenotype. Endocrinology 142:3996–4005
Wang Y, Spatz MK, Kannan K, Hayk H, Avivi A, Gorivodsky M, Pines M, Yayon A, Lonai P, Givol D 1999 A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci USA 96:4455–4460
Silva IV, Cebotaru V, Wang H, Wang XT, Wang SS, Guo G, Devuyst O, Thakker RV, Guggino WB, Guggino SE 2003 The ClC-5 knockout mouse model of Dent’s disease has renal hypercalciuria and increased bone turnover. J Bone Miner Res 18:615–623
Sun L, Iqbal J, Dolgilevich S, Yuen T, Wu XB, Moonga BS, Adebanjo OA, Bevis PJ, Lund F, Huang CL, Blair HC, Abe E, Zaidi M 2003 Disordered osteoclast formation and function in a CD38 (ADP-ribosyl cyclase)-deficient mouse establishes an essential role for CD38 in bone resorption. FASEB J 17:369–375
Ohyama K, Chung CH, Chen E, Gibson CW, Misof K, Fratzl P, Shapiro IM 1997 p53 influences mice skeletal development. J Craniofac Genet Dev Biol 17:161–171
Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE 1995 A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11:389–394
Footnotes
1 We thank Rheem D. Medh for compiling this bibliography. Dr. Medh is with the Department of Biology at California State University, Northridge. 
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