Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 11, 2006, Pages 4931-4934

  Simirskii, Vladimir N ^a   Lee, Robert S ^b   Wawrousek, Eric F ^b   Duncan, Melinda K ^a  

^a UNIVERSITY OF DELAWARE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILENSIN; GENOMIC DNA; LENS PROTEIN; PROTEIN CP49; UNCLASSIFIED DRUG; EYE PROTEIN; INTERMEDIATE FILAMENT PROTEIN; MESSENGER RNA; PHAKININ;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CP49 GENE; EVALUATION; GENE; GENE DELETION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; IMMUNOFLUORESCENCE; LENS; MOUSE; MOUSE MUTANT; MOUSE STRAIN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSGENIC MOUSE; ANIMAL; C57BL MOUSE; CATARACT; FLUORESCENCE MICROSCOPY; GENETICS; GENOTYPE; METABOLISM; MUTATION; PATHOLOGY;

ANIMALS; CATARACT; EYE PROTEINS; GENE DELETION; GENOTYPE; INTERMEDIATE FILAMENT PROTEINS; LENS, CRYSTALLINE; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSCOPY, FLUORESCENCE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 34247127422     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0423     Document Type: Article

References (26)

1. Chen Q, Liang D, Yang T, Leone G, Overbeek PA. Distinct capacities of individual E2Fs to induce cell cycle re-entry in postmitotic lens fiber cells of transgenic mice. Dev Neurosci. 2004;26:435-445.
2. Lovicu FJ, Schulz MW, Hales AM, et al. TGFβ induces morphological and molecular changes similar to human anterior subcapsular cataract. Br J Ophthalmol. 2002;86:220-226.
3. Schweers BA, Dyer MA. Perspective: new genetic tools for studying retinal development and disease. Vis Neurosci. 2005;22:553-560.
4. Silver LM. Mouse Genetics: Concepts and Applications. Oxford: Oxford University Press; 1995.
5. Taketo M, Schroeder AC, Mobraaten LE, et al. FVB/N: an inbred mouse strain preferable for transgenic analyses. Proc Natl Acad Sci USA. 1991;88:2065-2069.
6. Bowes C, Li T, Frankel WN, et al. Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad Sci USA. 1993;90:2955-2959.
7. Carter-Dawson LD, LaVail MM, Sidman RL. Differential effect of the rd mutation on rods and cones in the mouse retina. Invest Ophthalmol Vis Sci. 1978;17:489-498.
8. Sandilands A, Wang X, Hutcheson AM, et al. Bfsp2 mutation found in mouse 129 strains causes the loss of CP49′ and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Exp Eye Res. 2004;78:875-889.
9. Alizadeh A, Clark J, Seeberger T, Hess J, Blankenship T, FitzGerald PG. Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Invest Ophthalmol Vis Sci. 2004;45:884-891.
10. Reed NA, Oh D, Czymmek KJ, Duncan MK. An immunohistochemical method for the detection of proteins in the vertebrate lens. J Immunol Methods. 2001;253:243-252.
11. Zhao H, Yang Y, Rizo CM, Overbeek PA, Robinson ML. Insertion of a Pax6 consensus binding site into the αA-crystallin promoter acts as a lens epithelial cell enhancer in transgenic mice. Invest Ophthalmol Vis Sci. 2004;45:1930-1939.
12. Pittler SJ, Keeler CE, Sidman RL, Baehr W. PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect. Proc Natl Acad Sci USA. 1993;90:9616-9619.
13. Thaung C, West K, Clark BJ, et al. Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002;11:755-767.
14. Favor J. A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983;110:367-382.
15. Ehling UH, Favor J, Kratochvilova J, Neuhauser-Klaus A. Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea. Mutat Res. 1982;92:181-192.
16. Wong RW, Sham MH, Lau YL, Chan SY. An efficient method of generating transgenic mice by pronuclear microinjection. Mol Biotechnol. 2000;15:155-159.
17. Iredale JP. Demystified gene knockouts. Mol Pathol. 1999;52:111-116.
18. Sauer B. Inducible gene targeting in mice using the Cre/lox system. Methods. 1998;14:381-392.
19. Beck JA, Lloyd S, Hafezparast M, et al. Genealogies of mouse inbred strains. Nat Genet. 2000;24:23-25.
20. John SW, Smith RS, Savinova OV, et al. Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Invest Ophthalmol Vis Sci. 1998;39:951-962.
21. Anderson MG, Smith RS, Hawes NL, et al. Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet. 2002;30:81-85.
22. Robinson ML, Holmgren A, Dewey MJ. Genetic control of ocular morphogenesis: defective lens development associated with ocular anomalies in C57BL/6 mice. Exp Eye Res. 1993;56:7-16.
23. Overbeek PA, Chepelinsky AB, Khillan JS, Piatigorsky J, Westphal H. Lens-specific expression and developmental regulation of the bacterial chloramphenicol acetyltransferase gene driven by the mutine alpha A-crystallin promoter in transgenic mice. Proc Natl Acad Sci USA. 1985;82:7815-7819.
24. Mahon KA, Chepelinsky AB, Khillan JS, Overbeek PA, Piatigorsky J, Westphal H. Oncogenesis of the lens in transgenic mice. Science. 1987;235:1622-1628.
25. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet. 2000;66:1432-1436.
26. Conley YP, Erturk D, Keverline A, et al. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet. 2000;66:1426-1431.