Microphakia and congenital cataract formation in a novel Lim2C51R mutant mouse

Molecular Vision

Volumn 17, Issue , 2011, Pages 1164-1171

  Puk, Oliver ^a   Ahmad, Nafees ^a   Wagner, Sibylle ^a   de Angelis, Martin Hrabé ^a,b   Graw, Jochen ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE;

ACA47 GENE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTERIOR EYE CHAMBER DEPTH; AQUEOUS HUMOR; ARTICLE; CATARACTOGENESIS; CHROMOSOME 7; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA THICKNESS; EYE AXIS LENGTH; GENE; GENE SEQUENCE; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; LENS DISEASE; LENS NUCLEUS; LIM2 GENE; LINKAGE ANALYSIS; MALE; MICROPHAKIA; MICROSATELLITE MARKER; MISSENSE MUTATION; MOUSE; MOUSE MUTANT; NONHUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BASE SEQUENCE; CATARACT; DISEASE MODELS, ANIMAL; ETHYLNITROSOUREA; EYE; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GENETIC LINKAGE; HETEROZYGOTE; HOMOZYGOTE; LENS, CRYSTALLINE; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C57BL; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79957466023     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. World Health Organization. (2008) The Global Burdon of Disease: 2004 update. WHO-Press, Geneva, Switzerland.
2. Robman L, Taylor H. External factors in the development of cataract. Eye (Lond) 2005; 19:1074-82. [PMID: 16304587]
3. Graw J. Mouse models of cataract. J Genet 2009; 88:469-86. [PMID: 20090208]
4. Bassnett S, Wilmarth PA, David LL. The membrane proteome of the mouse lens fiber cell. Mol Vis 2009; 15:2448-63. [PMID: 19956408]
5. Taylor V, Welcher AA, Program AE, Suter U. Epithelial membrane protein-1, peripheral myelin protein 22, and lens lens membrane protein 20 define a novel gene family. J Biol Chem 1995; 270:28824-33. [PMID: 7499407]
6. Van Itallie CM, Anderson JM. Claudins and epithelial paracellular transport. Annu Rev Physiol 2006; 68:403-29. [PMID: 16460278]
7. Louis CF, Hur KC, Galvan AC, TenBroek EM, Jarvis LJ, Eccleston ED, Howard JB. Identification of an 18,000-dalton protein in mammalian lens fiber cell membranes. J Biol Chem 1989; 264:19967-73. [PMID: 2584203]
8. Tenbroek E, Arneson M, Jarvis L, Louis C. The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin46 in the bovine lens. J Cell Sci 1992; 103:245-57. [PMID: 1331134]
9. Ervin LA, Ball LE, Crouch RK, Schey KL. Phosphorylation and glycosylation of bovine lens MP20. Invest Ophthalmol Vis Sci 2005; 46:627-35. [PMID: 15671292]
10. Gonen T, Donaldson P, Kistler J. Galectin-3 is associated with the plasma membrane of lens fiber cells. Invest Ophthalmol Vis Sci 2000; 41:199-203. [PMID: 10634621]
11. Gonen T, Grey AC, Jacobs MD, Donaldson PJ, Kistler J. MP20, the second most abundand lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3. BMC Cell Biol 2001; 2:17. [PMID: 11532191]
12. Louis CF, Hogan P, Visco L, Strasburg G. Identity of the calmodulin-binding proteins in bovine lens plasma membranes. Exp Eye Res 1990; 50:495-503. [PMID: 2373153]
13. Louis CF, Johnson R, Turnquist J. Identification of the calmodulin-binding components in bovine lens plasma membranes. Eur J Biochem 1985; 150:271-8. [PMID: 4018084]
14. Jarvis LJ, Louis CF. Purification and oligomeric state of the major lens fiber cell membrane proteins. Curr Eye Res 1995; 14:799-808. [PMID: 8529419]
15. Steele EC Jr, Kerscher S, Lyon MF, Glenister PH, Favor J, Wang J, Church RL. Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. Mol Vis 1997; 3:5. [PMID: 9238094]
16. Shiels A, King JM, Mackay DS, Bassnett S. Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2. Invest Ophthalmol Vis Sci 2007; 48:500-8. [PMID: 17251442]
17. Ehling UH, Charles DJ, Favor J, Graw J, Kratochvilova J, Neuhäuser-Klaus A, Pretsch W. Induction of gene mutations in mice: the multiple endpoint approach. Mutat Res 1985; 150:393-401. [PMID: 4000165]
18. Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 2000; 25:444-7. [PMID: 10932192]
19. Puk O, Dalke C, Favor J, Hrabé de Angelis M, Graw J. Variations of eye size parameters among different strains of mice. Mamm Genome 2006; 17:851-7. [PMID: 16897341]
20. Puk O, Dalke C, Calzada-Wack J, Ahmad N, Klaften M, Wagner S, de Angelis MH, Graw J. Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse. Invest Ophthalmol Vis Sci 2009; 50:5653-61. [PMID: 19578028]
21. Klaften M, Hrabé de Angelis M. ARTS: a web-based tool for the set-up of high-throughput genome-wide mapping panels for the SNP genotyping of mouse mutants. Nucl Acids Res 2005; 33:W496-500. [PMID: 15980520]
22. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001; 11:863-74. [PMID: 11337480]
23. Ng PC, Henikoff S. Accounting for human polymorphismspredicted to affect protein function. Genome Res 2002; 12:436-46. [PMID: 11875032]
24. Ferrè F, Clote P. DiANNA: a web server for disulfide connectivity prediction. Nucleic Acids Res 2005; 33:W230-2. [PMID: 15980459].15980459
25. Prusky GT, Alam NM, Beekman S, Douglas RM. Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system. Invest Ophthalmol Vis Sci 2004; 45:4611-6. [PMID: 15557474]
26. Steele EC Jr, Wang J, Lo WK, Saperstein DA, Li X, Church RL. Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant. Mol Vis 2000; 6:85-94. [PMID: 10851259]
27. Puk O, Ahmad N, Wagner S, Hrabé de Angelis M, Graw J. First mutation in the (beta)A2-crystallin encoding gene is associated with small lenses and age-related cataracts. Invest Ophthalmol Vis Sci 2011; 52:2571-6. [PMID: 21212184]
28. Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. A missense mutation in the LIM2 gene is associated with autosomal recessive cataract in an inbred Iraqi Jewish family. Am J Hum Genet 2002; 70:1363-7. [PMID: 11917274]
29. Ponnam SPG, Ramesha K, Tejwani S, Matalia J, Kannabiran C. A missense mutation in LIM2 causes autosomal recessive congenital cataract. Mol Vis 2008; 14:1204-8. [PMID: 18596884]
30. Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y. FANTOM Consortium; RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group). The transcriptional landscape of the mammalian genome. Science 2005; 309:1559-63. [PMID: 16141072]
31. Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 2011; 9:e1000582. [PMID: 21267068]