Assessment of retinal structure and function in Ames waltzer mice

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 9, 2003, Pages 3986-3992

  Ball, Sherry L ^a,b,c   Bardenstein, David ^d   Alagramam, Kumar N ^c,d  

^a LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; PROTOCADHERIN 15; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DARKNESS; ELECTRORETINOGRAM; GENE MUTATION; HEARING LOSS; HISTOCHEMISTRY; LIGHT; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RETINA; RETINA DEGENERATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; USHER SYNDROME;

ANIMALS; CADHERINS; DARK ADAPTATION; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; GENES, RECESSIVE; HEARING LOSS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MUTATION; PHENOTYPE; PHOTIC STIMULATION; PHOTORECEPTORS, VERTEBRATE; PROTEIN PRECURSORS; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SYNDROME; VESTIBULAR DISEASES;

EID: 0042361987     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-1009     Document Type: Article

References (47)

1. Phelan JK, Bok D. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis. 2000;6:116-124.
2. Peachey NS, Ball SL. Electrophysiological analysis of visual function in mutant mice. Doc Ophthalmol. In press.
3. Smith RJ, Berlin CI, Hejtmancik JF, et al. Clinical diagnosis of the Usher syndromes. Am J Med Genet. 1994;50:32-38.
4. Adato A, Vreugde S, Joensuu T, et al. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet. 2002;10:339-350.
5. Fields RR, Zhou G, Huang D, et al. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet. 2002;71:607-617.
6. Kimberling WJ, Weston MD, Moller C, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990;7:245-249.
7. Fishman GA, Kumar A, Jeseph ME, et al. Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983;101:1367-1374.
8. Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 1992;14:979-987.
9. Larget-Piet D, Gerber S, Bonneau D, et al. Genetic heterogeneity of Usher Syndrome Type 1 in French families. Genomics. 1994;21:138-143.
10. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene. Nat Genet. 1995;16:191-193.
11. Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26:56-60.
12. Verpey E, Leibovici M, Zwainipoel I, et al. A defect in harmonin, PDZ domain-containing protein expressed in the inner ear sensor hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000;26:51-55.
13. Bolz H, von Bredeflow B, Ramirez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1. Nat Genet. 2001;27:108-112.
14. Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68:26-37.
15. Chaib H, Kaplan J, Gerber S, et al. A newly identified locus for Usher syndrome type 1, USH1E, maps to chromosome 21q21. Hum Mol Genet. 1997;6:27-31.
16. Alagramam KN, Yuan H, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709-1718.
17. Ahmed ZM, Riazuddin S, Bernsttein SL, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34.
18. Mustapha M, Chouery E, Torchard-Pagnez D, et al. A novel locus for Usher syndrome type 1, USH1G, maps to chromosome 17q24-25. Hum Genet. 2002;110:348-350.
19. Alagramam KN, Murcia CL, Kwon HY, et al. The mouse Ames waltzer hearing-loss mutant is caused by mutation of pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102.
20. Murcia CL, Woychik RP. Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo. Mech Dev. 2001;105:163-166.
21. Schaible RH, Ames Waltzer. Mouse News Lett. 1956;15:29.
22. Osako S, Hilding DA. Electron microscopic studies of capillary permeability in normal and Ames waltzer deaf mice. Acta Otolaryngol. 1971;71:365-376.
23. Cook S, Lane P. Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554.
24. Alagramam KN, Kwon HY, Cacheiro LA, et al. A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics. 1999;152:1691-1699.
25. Fishman GA, Birch DG, Holder GE, Brigell MG. Electrophysiologic testing in disorders of the retina, optic nerve and visual pathway. In: Ophthalmology Monographs 2nd ed. San Francisco: 2001:1-152.
26. Ball SL, Lindberg FP, Lagenaur CF, Peachey NS. Electroretinograms remain normal in mice lacking a synapse associated protein. Neurosci Let. 2001;298:111-114.
27. Pardue MT, McCall MA, LaVail MM, Gregg RG, Peachey NS. A naturally occurring mouse model of X-linked congenital stationary night blindness. Invest Ophthalmol Vis Sci. 1998;39:2443-2449.
28. 2 subunit of voltage-dependent calcium channels in synaptic transmission in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci. 2002;43:1595-1603.
29. Masu M, Iwakabe H, Tagawa Y, et al. Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell. 1995;80:757-765.
30. Rohrer B. Gene dosage effect of the TrkB receptor on rod physiology and biochemistry in juvenile mouse retina. Mol Vis. 2001;7:288-296.
31. Xu X, Quiambao AB, Roveri L, et al. Degeneration of cone photoreceptors induced by expression of the Mas1 protooncogene. Exp Neurol. 2000;163:207-219.
32. Seeliger MW, Zrenner E, Apfelstedt-Sylla E, Jaissle GB. Identification of Usher syndrome subtypes by ERG implicit time. Invest Ophthalmol Vis Sci. 2001;42:3066-3071.
33. Astuto LM, Weston MD, Carney CA, et al. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet. 2000;67:1569-1574.
34. Alagramam KN, Zahorsky-Reeves J, Wright CG, et al. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear Res. 2000;148:181-190.
35. Li C, Cheng M, Yang H, Peachey NS, Naash MI. Age-related changes in the mouse outer retina. Optometry Vis Sci. 2001;78:425-430.
36. El-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet. 1996;5:1171-1178.
37. Nollet F, Kools P, van Roy F. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary member. J Mol Biol. 2000;299:551-572.
38. Angst B, Marcozzi C, Magee A. The cadherin superfamily: diversity in from and function. J Cell Sci. 2001;114:629-641.
39. Shapiro L, Colman DR. The diversity of cadherins and implications for a synaptic adhesive code in the CNS. Neuron. 1999;23:427-430.
40. Suzuki ST. Structural and functional diversity of cadherin superfamily: are new members of cadherin superfamily involved in signal transduction pathway? J Cell Biochem. 2000;61:531-542.
41. , Pillers DM, Fitzgerald KM, Duncan NM, et al. Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with site of dystrophin mutations. Hum Genet. 1999;105:2-9.
42. Steel KP. Inherited hearing defects in mice. Annu Rev Genet. 1995;29:675-701.
43. Libby RT, Steele KP. Electroretinographic anomalies in mice with mutations in My07a, the gene involved in human usher syndrome type 1B. Invest Ophthalmol Vis Sci. 2001;42:770-778.
44. Humphries MM, Kiang S, McNally N, et al. Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background. Vis Neurosci. 2001;18:437-443.
45. Sundberg JP, Smith RS, John SWM. Selection of controls. In: Smith RS, John SWM, Nishina PM, Sundberg JP, eds. Systematic Evaluation of the Mouse Eye. Boca Raton, FL: CRC Press; 2002:77-80.
46. Haider NB, Ikeda A, Naggert JK, Nishina PM. Genetic modifiers of vision and hearing. Hum Mol Genet. 2002;11:1195-1206.
47. Maeda YY, Funata N, Takahama S, Sugata Y, Yonekawa H. Two interactive genes responsible for a new inherited cataract (RCT) in the mouse. Mamm Genome. 2001;12:278-283.