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Volumn 212, Issue 2, 2008, Pages 135-143

Phenotypic variability and craniofacial dysmorphology: Increased shape variance in a mouse model for cleft lip

Author keywords

Cleft lip and palate; Computed microtomography; Craniofacial development; Mouse embryos; Palate formation; Three dimensional morphometrics

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CLEFT LIP PALATE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; EMBRYO; EMBRYO PATTERN FORMATION; GENETIC VARIABILITY; HUMAN; MORPHOMETRICS; MOUSE; NONHUMAN; PENETRANCE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; TERATOLOGY; THREE DIMENSIONAL IMAGING;

EID: 38849193963     PISSN: 00218782     EISSN: 14697580     Source Type: Journal    
DOI: 10.1111/j.1469-7580.2007.00845.x     Document Type: Article
Times cited : (64)

References (62)
  • 1
    • 0014869189 scopus 로고
    • Effect of the uterine environment on the frequency of spontaneous cleft lip in CL/FR mice
    • Bornstein S, Trasler DG, Fraser FC (1970) Effect of the uterine environment on the frequency of spontaneous cleft lip in CL/FR mice. Teratology 3, 295-298.
    • (1970) Teratology , vol.3 , pp. 295-298
    • Bornstein, S.1    Trasler, D.G.2    Fraser, F.C.3
  • 2
    • 35748935928 scopus 로고    scopus 로고
    • Evaluation of three-dimensional registration methodologies for in-vivo microcomputed tomography
    • Boyd S K, Moser S, Kuhn M, Klinck J, Krauze PL, et al. (2006) Evaluation of three-dimensional registration methodologies for in-vivo microcomputed tomography. Ann Biomed Eng 34, 1587-1599.
    • (2006) Ann Biomed Eng , vol.34 , pp. 1587-1599
    • Boyd, S.1    Moser, S.2    Kuhn, M.3    Klinck, J.4    Krauze, P.L.5
  • 4
    • 22944463010 scopus 로고    scopus 로고
    • Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system
    • Carroll TJ, Park JS, Hayashi S, Majumdar A, McMahon AP (2005) Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev Cell 9, 283-292.
    • (2005) Dev Cell , vol.9 , pp. 283-292
    • Carroll, T.J.1    Park, J.S.2    Hayashi, S.3    Majumdar, A.4    McMahon, A.P.5
  • 5
    • 0023608443 scopus 로고
    • Genetic epidemiology of cleft lip with or without cleft palate in the population of Hawaii
    • Chung CS, Mi MP, Beechert AM (1987) Genetic epidemiology of cleft lip with or without cleft palate in the population of Hawaii. Genet Epidemiol 4, 415-423.
    • (1987) Genet Epidemiol , vol.4 , pp. 415-423
    • Chung, C.S.1    Mi, M.P.2    Beechert, A.M.3
  • 6
    • 0023004161 scopus 로고
    • A comparative study of development during primary palate formation in A/ WySn, C57BL/6, and their F1 crosses
    • Ciriani D, Diewert VM (1986) A comparative study of development during primary palate formation in A/WySn, C57BL/6, and their F1 crosses. J Craniofac Genet Dev Biol 6, 369-377.
    • (1986) J Craniofac Genet Dev Biol , vol.6 , pp. 369-377
    • Ciriani, D.1    Diewert, V.M.2
  • 7
    • 0014605184 scopus 로고
    • A maternal effect on the frequency of spontaneous cleft lip in the A-J mouse
    • Davidson JG, Fraser FC, Schlager G (1969) A maternal effect on the frequency of spontaneous cleft lip in the A-J mouse. Teratology 2, 371-376.
    • (1969) Teratology , vol.2 , pp. 371-376
    • Davidson, J.G.1    Fraser, F.C.2    Schlager, G.3
  • 8
    • 0018575777 scopus 로고
    • The influence of fixation procedure, embedding medium and section thickness on morphometric data in thyroid gland
    • Denef JF, Cordier AC, Mesquita M, Haumont S (1979) The influence of fixation procedure, embedding medium and section thickness on morphometric data in thyroid gland. Histochemistry 63, 163-171.
    • (1979) Histochemistry , vol.63 , pp. 163-171
    • Denef, J.F.1    Cordier, A.C.2    Mesquita, M.3    Haumont, S.4
  • 9
    • 0027515039 scopus 로고
    • Growth and morphogenesis of the human embryonic midface during primary palate formation analyzed in frontal sections
    • Diewert VM, Lozanoff S (1993) Growth and morphogenesis of the human embryonic midface during primary palate formation analyzed in frontal sections. J Craniofac Genet Dev Biol 13, 162-183.
    • (1993) J Craniofac Genet Dev Biol , vol.13 , pp. 162-183
    • Diewert, V.M.1    Lozanoff, S.2
  • 11
    • 0025299950 scopus 로고
    • Morphological observations in normal primary palate and cleft lip embryos in the Kyoto collection
    • Diewert VM, Shiota K (1990) Morphological observations in normal primary palate and cleft lip embryos in the Kyoto collection. Teratology 41, 663-677.
    • (1990) Teratology , vol.41 , pp. 663-677
    • Diewert, V.M.1    Shiota, K.2
  • 12
    • 0027252147 scopus 로고
    • Recent advances in primary palate and midface morphogenesis research
    • Diewert VM, Wang KY (1992) Recent advances in primary palate and midface morphogenesis research. Crit Rev Oral Biol Med 4, 111-130.
    • (1992) Crit Rev Oral Biol Med , vol.4 , pp. 111-130
    • Diewert, V.M.1    Wang, K.Y.2
  • 13
    • 15544386991 scopus 로고    scopus 로고
    • Evidence for canalization of Distal-less function in the leg of Drosophila melanogaster
    • Dworkin I (2005) Evidence for canalization of Distal-less function in the leg of Drosophila melanogaster. Evol Dev 7, 89-100.
    • (2005) Evol Dev , vol.7 , pp. 89-100
    • Dworkin, I.1
  • 14
    • 0242349695 scopus 로고    scopus 로고
    • Evidence that Egfr contributes to cryptic genetic variation for photoreceptor determination in natural populations of Drosophila melanogaster
    • Dworkin I, Palsson A, Birdsall K, Gibson G (2003) Evidence that Egfr contributes to cryptic genetic variation for photoreceptor determination in natural populations of Drosophila melanogaster. Curr Biol 13, 1888-1893.
    • (2003) Curr Biol , vol.13 , pp. 1888-1893
    • Dworkin, I.1    Palsson, A.2    Birdsall, K.3    Gibson, G.4
  • 15
    • 0038499403 scopus 로고    scopus 로고
    • Craniofacial development: The tissue and molecular interactions that control development of the head
    • III-VI
    • Francis-West PH, Robson L, Evans DJ (2003) Craniofacial development: The tissue and molecular interactions that control development of the head. Adv Anat Embryol Cell Biol 169, III-VI, 1-138.
    • (2003) Adv Anat Embryol Cell Biol , vol.169 , pp. 1-138
    • Francis-West, P.H.1    Robson, L.2    Evans, D.J.3
  • 16
    • 0014783555 scopus 로고
    • The genetics of cleft lip and cleft palate
    • Fraser FC (1970) The genetics of cleft lip and cleft palate. Am J Hum Genet 22, 336-352.
    • (1970) Am J Hum Genet , vol.22 , pp. 336-352
    • Fraser, F.C.1
  • 17
    • 0014798718 scopus 로고
    • Relation of face shape to susceptibility to congenital cleft lip. A preliminary report
    • Fraser FC, Pashayan H (1970) Relation of face shape to susceptibility to congenital cleft lip. A preliminary report. J Med Genet 7, 112-117.
    • (1970) J Med Genet , vol.7 , pp. 112-117
    • Fraser, F.C.1    Pashayan, H.2
  • 18
    • 0034051465 scopus 로고    scopus 로고
    • Canalization in evolutionary genetics: A stabilizing theory?
    • Gibson G, Wagner G (2000) Canalization in evolutionary genetics: A stabilizing theory? Bioessays 22, 372-380.
    • (2000) Bioessays , vol.22 , pp. 372-380
    • Gibson, G.1    Wagner, G.2
  • 20
    • 84930065113 scopus 로고    scopus 로고
    • Canalization, developmental stability, and morphological integration in primate limbs
    • Hallgrímsson B, Willmore K, Hall BK (2002) Canalization, developmental stability, and morphological integration in primate limbs. Yearbook Phys Anthropol 45, 131-158.
    • (2002) Yearbook Phys Anthropol , vol.45 , pp. 131-158
    • Hallgrímsson, B.1    Willmore, K.2    Hall, B.K.3
  • 21
    • 12344262500 scopus 로고    scopus 로고
    • Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate
    • Hallgrímsson B, Dorval CJ, Zelditch ML, German RZ (2004) Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate. J Anat 205, 501-517.
    • (2004) J Anat , vol.205 , pp. 501-517
    • Hallgrímsson, B.1    Dorval, C.J.2    Zelditch, M.L.3    German, R.Z.4
  • 22
    • 84882496283 scopus 로고    scopus 로고
    • The study of phenotypic variability: An emerging research agenda for understanding the developmental-genetic architecture underlying phenotypic variation
    • In (eds Hallgrimsson B, Hal BKL) New York: Elsevier Academic Press
    • Hallgrímsson B, Brown J, Hall BK (2005) The study of phenotypic variability: An emerging research agenda for understanding the developmental-genetic architecture underlying phenotypic variation. In Variation: A Central Concept in Biology (eds Hallgrimsson B, Hal BKL), pp. 525-551. New York: Elsevier Academic Press.
    • (2005) Variation: A Central Concept in Biology , pp. 525-551
    • Hallgrímsson, B.1    Brown, J.2    Hall, B.K.3
  • 24
    • 33749024194 scopus 로고    scopus 로고
    • N-myc is an essential downstream effector of Shh signaling during both normal and neoplastic cerebellar growth
    • Hatton BA, Knoepfler PS, Kenney AM, Rowitch DH, de Alboran IM, Olson JM, et al. (2006) N-myc is an essential downstream effector of Shh signaling during both normal and neoplastic cerebellar growth. Cancer Res 66, 8655-8661.
    • (2006) Cancer Res , vol.66 , pp. 8655-8661
    • Hatton, B.A.1    Knoepfler, P.S.2    Kenney, A.M.3    Rowitch, D.H.4    de Alboran, I.M.5    Olson, J.M.6
  • 25
    • 0029043080 scopus 로고
    • Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population
    • Jara L, Blanco R, Chiffelle I, Palomino H, Carreno H (1995) Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population. Am J Med Genet 57, 548-551.
    • (1995) Am J Med Genet , vol.57 , pp. 548-551
    • Jara, L.1    Blanco, R.2    Chiffelle, I.3    Palomino, H.4    Carreno, H.5
  • 26
    • 0019958682 scopus 로고
    • Differences in frequency of cleft lip among the A strains of mice
    • Juriloff DM (1982) Differences in frequency of cleft lip among the A strains of mice. Teratology 25, 361-368.
    • (1982) Teratology , vol.25 , pp. 361-368
    • Juriloff, D.M.1
  • 27
    • 0018823265 scopus 로고
    • Genetic maternal effects on cleft lip frequency in A/J and CL/Fr mice
    • Juriloff DM, Fraser FC (1980) Genetic maternal effects on cleft lip frequency in A/J and CL/Fr mice. Teratology 21, 167-175.
    • (1980) Teratology , vol.21 , pp. 167-175
    • Juriloff, D.M.1    Fraser, F.C.2
  • 28
    • 4444277760 scopus 로고    scopus 로고
    • A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci
    • Juriloff DM, Harris MJ, Dewell SL (2004) A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci. Birth Defects Res Part A Clin Mol Teratol 70, 509-518.
    • (2004) Birth Defects Res Part A Clin Mol Teratol , vol.70 , pp. 509-518
    • Juriloff, D.M.1    Harris, M.J.2    Dewell, S.L.3
  • 29
    • 14244258927 scopus 로고    scopus 로고
    • Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice
    • Juriloff DM, Harris MJ, Dewell SL, Brown CJ, Mager DL, Gagnier L, et al. (2005) Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice. Birth Defects Res A Clin Mol Teratol 73, 103-113.
    • (2005) Birth Defects Res A Clin Mol Teratol , vol.73 , pp. 103-113
    • Juriloff, D.M.1    Harris, M.J.2    Dewell, S.L.3    Brown, C.J.4    Mager, D.L.5    Gagnier, L.6
  • 30
    • 33749045017 scopus 로고    scopus 로고
    • Wnt9b is the mutated gene involved in multifacial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test
    • Juriloff DM, Harris MJ, McMahon AP, Carroll TJ, Lidral AC (2006) Wnt9b is the mutated gene involved in multifacial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res A Clin Mol Teratol 76, 574-579.
    • (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 574-579
    • Juriloff, D.M.1    Harris, M.J.2    McMahon, A.P.3    Carroll, T.J.4    Lidral, A.C.5
  • 31
    • 0037232580 scopus 로고    scopus 로고
    • Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors
    • Kenney AM, Cole MD, Rowitch DH (2003) Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors. Development 130, 15-28.
    • (2003) Development , vol.130 , pp. 15-28
    • Kenney, A.M.1    Cole, M.D.2    Rowitch, D.H.3
  • 32
    • 0022884820 scopus 로고
    • Intrafamilial variability of popliteal pterygium syndrome: A family description
    • Khan SN, Hufnagle KG, Pool R (1986) Intrafamilial variability of popliteal pterygium syndrome: A family description. Cleft Palate J 23, 233-236.
    • (1986) Cleft Palate J , vol.23 , pp. 233-236
    • Khan, S.N.1    Hufnagle, K.G.2    Pool, R.3
  • 33
    • 0020527906 scopus 로고
    • Maternal factors in cleft lip with or without palate: Evidence from interracial crosses in the United States
    • Khoury MJ, Erickson JD, James LM (1983) Maternal factors in cleft lip with or without palate: Evidence from interracial crosses in the United States. Teratology 27, 351-357.
    • (1983) Teratology , vol.27 , pp. 351-357
    • Khoury, M.J.1    Erickson, J.D.2    James, L.M.3
  • 34
    • 0033044478 scopus 로고    scopus 로고
    • Genetics of fluctuating asymmetry: A developmental model of developmental instability
    • Klingenberg CP, Nijhout HF (1999) Genetics of fluctuating asymmetry: A developmental model of developmental instability. Evolution 53, 358-375.
    • (1999) Evolution , vol.53 , pp. 358-375
    • Klingenberg, C.P.1    Nijhout, H.F.2
  • 37
    • 33744947501 scopus 로고    scopus 로고
    • Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice
    • Lan Y, Ryan RC, Zhang Z, Bullard SA, Bush JO, Maltby KM, et al. (2006) Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn 235, 1448-1454.
    • (2006) Dev Dyn , vol.235 , pp. 1448-1454
    • Lan, Y.1    Ryan, R.C.2    Zhang, Z.3    Bullard, S.A.4    Bush, J.O.5    Maltby, K.M.6
  • 38
    • 54949120965 scopus 로고    scopus 로고
    • Control of canalization and evolvability by hsp90
    • Milton CC, Ulane CM, Rutherford S (2006) Control of canalization and evolvability by hsp90. PLoS ONE 1, e75.
    • (2006) PLoS ONE , vol.1
    • Milton, C.C.1    Ulane, C.M.2    Rutherford, S.3
  • 39
    • 3042842601 scopus 로고    scopus 로고
    • Cleft palate: Players, pathways, and pursuits
    • Murray JC, Schutte BC (2004) Cleft palate: Players, pathways, and pursuits. J Clin Invest 113, 1676-1678.
    • (2004) J Clin Invest , vol.113 , pp. 1676-1678
    • Murray, J.C.1    Schutte, B.C.2
  • 42
    • 0032526776 scopus 로고    scopus 로고
    • A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation
    • Pezzetti F, Scapoli L, Martinelli M, Carinci F, Bodo M, Carinci P, et al. (1998) A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation. Genomics 50, 299-305.
    • (1998) Genomics , vol.50 , pp. 299-305
    • Pezzetti, F.1    Scapoli, L.2    Martinelli, M.3    Carinci, F.4    Bodo, M.5    Carinci, P.6
  • 43
    • 0037289511 scopus 로고    scopus 로고
    • Mouse Wnt9b transforming activity, tissue-specific expression, and evolution
    • Qian J, Jiang Z, Li M, Heaphy P, Liu YH, Shackleford GM (2003) Mouse Wnt9b transforming activity, tissue-specific expression, and evolution. Genomics 81, 34-46.
    • (2003) Genomics , vol.81 , pp. 34-46
    • Qian, J.1    Jiang, Z.2    Li, M.3    Heaphy, P.4    Liu, Y.H.5    Shackleford, G.M.6
  • 44
    • 0004941075 scopus 로고
    • Harelip in the house mouse. I. Effects of the external and internal environments
    • Reed SC (1936) Harelip in the house mouse. I. Effects of the external and internal environments. Genetics 21, 339-360.
    • (1936) Genetics , vol.21 , pp. 339-360
    • Reed, S.C.1
  • 46
    • 1542318381 scopus 로고    scopus 로고
    • Sonic hedgehog patterning in chick neural plate is antagonized by a Wnt3-like signal
    • Robertson CP, Braun MM, Roelink H (2004) Sonic hedgehog patterning in chick neural plate is antagonized by a Wnt3-like signal. Dev Dyn 229, 510-519.
    • (2004) Dev Dyn , vol.229 , pp. 510-519
    • Robertson, C.P.1    Braun, M.M.2    Roelink, H.3
  • 47
    • 0012579102 scopus 로고
    • Mutant expression and canalization
    • Scharloo W (1964) Mutant expression and canalization. Nature 203, 1095-1096.
    • (1964) Nature , vol.203 , pp. 1095-1096
    • Scharloo, W.1
  • 48
    • 0002498352 scopus 로고
    • Canalization: Genetic and developmental aspects
    • Scharloo W (1991) Canalization: Genetic and developmental aspects. Annu Rev Ecol Syst 22, 65-93.
    • (1991) Annu Rev Ecol Syst , vol.22 , pp. 65-93
    • Scharloo, W.1
  • 51
    • 0006226596 scopus 로고
    • Stony Brook, NY
    • Slice D E (1994-1999) Morpheus. Stony Brook, NY.
    • (1994) Morpheus
    • Slice, D.1
  • 54
    • 0014245578 scopus 로고
    • Pathogenesis of cleft lip and its relation to embryonic face shape in A-J and C57BL mice
    • Trasler DG (1968) Pathogenesis of cleft lip and its relation to embryonic face shape in A-J and C57BL mice. Teratology 1, 33-49.
    • (1968) Teratology , vol.1 , pp. 33-49
    • Trasler, D.G.1
  • 55
    • 51149203927 scopus 로고
    • The canalisation of development and the inheritance of acquired characters
    • Waddington CH (1942) The canalisation of development and the inheritance of acquired characters. Nature 150, 563.
    • (1942) Nature , vol.150 , pp. 563
    • Waddington, C.H.1
  • 57
    • 0026700895 scopus 로고
    • A morphometric analysis of craniofacial growth in cleft lip and noncleft mice
    • Wang K-Y, Diewert VM (1992) A morphometric analysis of craniofacial growth in cleft lip and noncleft mice. J Craniofac Genet Dev Biol 12, 141-154.
    • (1992) J Craniofac Genet Dev Biol , vol.12 , pp. 141-154
    • Wang, K.-Y.1    Diewert, V.M.2
  • 58
    • 0029100158 scopus 로고
    • Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice
    • Wang KY, Juriloff DM, Diewert VM (1995) Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice. J Craniofac Genet Dev Biol 15, 99-116.
    • (1995) J Craniofac Genet Dev Biol , vol.15 , pp. 99-116
    • Wang, K.Y.1    Juriloff, D.M.2    Diewert, V.M.3
  • 60
    • 0032406715 scopus 로고    scopus 로고
    • Mechanisms of Wnt signaling in development
    • Wodarz A, Nusse R (1998) Mechanisms of Wnt signaling in development. Annu Rev Cell Dev Biol 14, 59-88.
    • (1998) Annu Rev Cell Dev Biol , vol.14 , pp. 59-88
    • Wodarz, A.1    Nusse, R.2
  • 61
    • 2442715160 scopus 로고    scopus 로고
    • Transverse craniofacial features and their genetic predisposition in families with nonsyndromic unilateral cleft lip and palate
    • Yoon YJ, Perkiomaki MR, Tallents RH, Barillas I, Herrera-Guido R, Fong CT, et al. (2004) Transverse craniofacial features and their genetic predisposition in families with nonsyndromic unilateral cleft lip and palate. Cleft Palate Craniofac J 41, 256-261.
    • (2004) Cleft Palate Craniofac J , vol.41 , pp. 256-261
    • Yoon, Y.J.1    Perkiomaki, M.R.2    Tallents, R.H.3    Barillas, I.4    Herrera-Guido, R.5    Fong, C.T.6
  • 62
    • 33847323985 scopus 로고    scopus 로고
    • Comparative morphometrics of embryonic facial morphogenesis: Implications for cleft-lip etiology
    • Young NM, Wat S, Diewert VM, Browder LW, Hallgrimsson B (2007) Comparative morphometrics of embryonic facial morphogenesis: implications for cleft-lip etiology. Anat Rec (Hoboken) 290, 123-139.
    • (2007) Anat Rec (Hoboken) , vol.290 , pp. 123-139
    • Young, N.M.1    Wat, S.2    Diewert, V.M.3    Browder, L.W.4    Hallgrimsson, B.5


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