Search Results - "Hawes, NL"

Retinal degeneration mutants in the mouse by Chang, B., Hawes, N.L., Hurd, R.E., Davisson, M.T., Nusinowitz, S., Heckenlively, J.R.

“…The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to look for…”
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Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice by John, Simon W.M, Anderson, Michael G, Smith, Richard S, Hawes, Norman L, Zabaleta, Adriana, Chang, Bo, Wiggs, Janey L

“…Pigmentary glaucoma is a significant cause of human blindness. Abnormally liberated iris pigment and cell debris enter the ocular drainage structures, leading…”
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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina by Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., Bechtold, Lesley, Haider, Neena B., Tepass, Ulrich, Heckenlively, John R., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.

“…Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis. We have recently…”
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Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA) by Pang, Ji-Jing, Chang, Bo, Hawes, Norman L, Hurd, Ronald E, Davisson, Muriel T, Li, Jie, Noorwez, Syed M, Malhotra, Ritu, McDowell, J Hugh, Kaushal, Shalesh, Hauswirth, William W, Nusinowitz, Steven, Thompson, Debra A, Heckenlively, John R

“…To report the phenotype and characterization of a new, naturally occurring mouse model of hereditary retinal degeneration (rd12). The retinal phenotype of rd12…”
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Mouse model of subretinal neovascularization with choroidal anastomosis by Heckenlively, John R, Hawes, Norman L, Friedlander, Martin, Nusinowitz, Steven, Hurd, Ronald, Davisson, Muriel, Chang, Bo

“…To characterize the phenotype and report a reliable genetic model of retinal angiogenesis and subretinal neovascularization in the mouse. The mouse phenotype…”
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Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene by Johnson, Kenneth R., Gagnon, Leona H., Webb, Lisa S., Peters, Luanne L., Hawes, Norman L., Chang, Bo, Zheng, Qing Yin

“…We mapped two new recessive mutations causing circling behavior and deafness to the same region on chromosome 7 and showed they are allelic by complementation…”
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Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice [published erratum appears in Invest Ophthalmol Vis Sci 1998 Aug;39(9):1641] by John, SW, Smith, RS, Savinova, OV, Hawes, NL, Chang, B, Turnbull, D, Davisson, M, Roderick, TH, Heckenlively, JR

“…To characterize ocular abnormalities associated with iris atrophy in DBA/2J mice and to determine whether mice of this strain develop elevated intraocular…”
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Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice by John, Simon W M, Chang, Bo, Smith, Richard S, Hawes, Norman L, Anderson, Michael G, Zabaleta, Adriana, Savinova, Olga, Roderick, Thomas H, Heckenlively, John R, Davisson, Muriel T

“…Glaucomas are a major cause of blindness. Visual loss typically involves retinal ganglion cell death and optic nerve atrophy subsequent to a pathologic…”
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A Deletion in a Photoreceptor-Specific Nuclear Receptor mRNA Causes Retinal Degeneration in the rd7 Mouse by Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., Nusinowitz, Steven, Heckenlively, John R., Roderick, Thomas H., Kozak, Christine A., Danciger, Michael, Davisson, Muriel T., Farber, Debora B.

“…The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the…”
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Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent by Young, Kelly A, Berry, Melissa L, Mahaffey, Connie L, Saionz, Jennifer R, Hawes, Norman L, Chang, Bo, Zheng, Qing Yin, Smith, Richard S, Bronson, Roderick T, Nelson, Randy J, Simpson, Elizabeth M

“…A new spontaneous mouse mutation named fierce ( frc) is deleted for the nuclear receptor Nr2e1 gene (also known as Tlx, mouse homolog of Drosophila tailless)…”
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Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation by Burmeister, Margit, Novak, Jakub, Liang, Mei-Ying, Basu, Sharmila, Ploder, Lynda, Hawes, Norman L, Vidgen, Danka, Hoover, Frank, Goldman, Daniel, Kalnins, Vitauts I, Roderick, Thomas H, Taylor, Benjamin A, Hankin, Mark H, Mclnnes, Roderick R

“…Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying…”
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Mouse models of ocular diseases by Chang, B, Hawes, N L, Hurd, R E, Wang, J, Howell, D, Davisson, M T, Roderick, T H, Nusinowitz, S, Heckenlively, J R

“…The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to discover…”
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A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice by Chang, Bo, Wang, Xin, Hawes, Norman L, Ojakian, Ryan, Davisson, Muriel T, Lo, Woo-Kuen, Gong, Xiaohua

“…Mutations of connexin alpha 8 (GJA8 or Cx50) and connexin alpha 3 (GJA3 or Cx46) in humans have been reported to cause cataracts with semi-dominant inheritance…”
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Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens by Hawes, Norman L, Chang, Bo, Hageman, Gregory S, Nusinowitz, Steven, Nishina, Patsy M, Schneider, Bobbie S, Smith, Richard S, Roderick, Thomas H, Davisson, Muriel T, Heckenlively, John R

“…To characterize the genetics and phenotype of a new mouse mutant with retinal degeneration, rd6, that is associated with extensive, scattered, small white…”
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Deficiency of SHP-1 Protein-Tyrosine Phosphatase in "Viable Motheaten" Mice Results in Retinal Degeneration by Lyons, Bonnie L, Smith, Richard S, Hurd, Ron E, Hawes, Norman L, Burzenski, Lisa M, Nusinowitz, Steven, Hasham, Muneer G, Chang, Bo, Shultz, Leonard D

“…Viable motheaten mutant mice (abbreviated allele symbol me(v)) are deficient in Src-homology 2-domain phosphatase (SHP)-1, a critical negative regulator of…”
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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6 by Kameya, Shuhei, Hawes, Norman L., Chang, Bo, Heckenlively, John R., Naggert, Jürgen K., Nishina, Patsy M.

“…The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to…”
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Severe Ocular Abnormalities in C57BL/6 but Not in 129/Sv p53-Deficient Mice by Ikeda, Sakae, Hawes, Norman L, Chang, Bo, Avery, Cindy S, Smith, Richard S, Nishina, Patsy M

“…To demonstrate the importance of genetic background interaction on the development of ocular phenotypes in p53-deficient mice. Eyes of adult mice, homozygous…”
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Characterization of the mouse Prox1 gene by Tomarev, S I, Zinovieva, R D, Chang, B, Hawes, N L

“…Prox1, a vertebrate homologue of Drosophila prospero, encodes a divergent homeodomain protein. We have isolated and characterized full length mouse Prox1 cDNA…”
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Lop12, a Mutation in Mouse Crygd Causing Lens Opacity Similar to Human Coppock Cataract by Smith, Richard S., Hawes, Norman L., Chang, Bo, Roderick, Thomas H., Akeson, Ellen C., Heckenlively, John R., Gong, Xiaohua, Wang, Xin, Davisson, Muriel T.

“…A new cataract mutation was discovered in an ongoing program to identify new mouse models of hereditary eye disease. Lens opacity 12 (Lop12) is a semidominant…”
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Mouse Model for Usher Syndrome: Linkage Mapping Suggests Homology to Usher Type I Reported at Human Chromosome 11p15 by Heckenlively, John R., Chang, Bo, Erway, Lawrence C., Peng, Chen, Hawes, Norman L., Gregory S.Hageman, Roderick, Thomas H.

“…Usher syndrome is a group of diseases with autosomal recessive inheritance, congenital hearing loss, and the development of retinitis pigmentosa, a progressive…”
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