Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse

Visual Neuroscience

Volumn 24, Issue 1, 2007, Pages 111-123

  Pinto, Lawrence H ^a   Vitaterna, Martha H ^a   Shimomura, Kazuhiro ^a   Siepka, Sandra M ^a   Balannik, Victoria ^a   McDearmon, Erin L ^a   Omura, Chiaki ^a   Lumayag, Stephen ^a   Invergo, Brandon M ^a   Glawe, Brett ^a   Cantrell, Donald R ^b   Inayat, Samsoon ^b,h   Olvera, Marissa A ^c   Vessey, Kirstan A ^d   McCall, Maureen A ^d   Maddox, Dennis ^e   Morgans, Catherine W ^f   Young, Brandon ^g   Pletcher, Mathew T ^g   Mullins, Robert F ^c   Troy, John B ^b   Takahashi, Joseph S ^a   more..

^a NORTHWESTERN UNIVERSITY   (United States)

^b Northwestern University   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF LOUISVILLE   (United States)

^e JACKSON LABORATORY   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g SCRIPPS RESEARCH INSTITUTE   (United States)

^h UNIVERSITY OF ENGINEERING AND TECHNOLOGY   (Pakistan)

Author keywords

Chemical mutagenesis; Congenital stationary night blindness; Depolarizing bipolar cells; Forward genetics; Gene discovery; Molecular cloning; ON pathway; Positional cloning; Retina; Retinal ganglion cells; Rod pathway; Visual acuity

Indexed keywords

ETHYLNITROSOUREA; METABOTROPIC RECEPTOR 6;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHROMOSOME 11; CONTRAST SENSITIVITY; CONTROLLED STUDY; ELECTRORETINOGRAM; GENE; GENE EXPRESSION; GENE FUNCTION; GENE GRM6; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HISTOLOGY; IMMUNOREACTIVITY; LIGAND BINDING; MALE; MOUSE; MULTIGENE FAMILY; MUTAGENESIS; NONHUMAN; OOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROGENY; PROTEIN DOMAIN; RECESSIVE INHERITANCE; RETINA GANGLION CELL; VISION; VISUAL ACUITY; VISUAL STIMULATION;

ANIMALS; CHROMOSOME MAPPING; DARKNESS; ELECTRORETINOGRAPHY; ETHYLNITROSOUREA; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; MICE; MICE, INBRED C57BL; MUTAGENESIS, SITE-DIRECTED; MUTAGENS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, METABOTROPIC GLUTAMATE; RETINA; RNA, MESSENGER;

EID: 34247897195     PISSN: 09525238     EISSN: 14698714     Source Type: Journal    
DOI: 10.1017/S0952523807070149     Document Type: Article

References (27)

1. CHANG, B., HECKENLIVELY, J.R., BAYLEY, P.R., BRECHA, N.C., DAVISSON, M.T., HAWES, N.L., HIRANO, A.A., HURD, R.E., IKEDA, A., JOHNSON, B.A., MCCALL, M.A., MORGANS, C.W., NUSINOWITZ, S., PEACHEY, N.S., RICE, D.S., VESSEY, K.A. & GREGG, R.G. (2006). The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Visual Neuroscience 23, 11-24.
2. DAWSON, W.W., TRICK, G.L. & LITZKOW, C.A. (1979). Improved electrode for electroretinography. Investigative Ophthalmology & Visual Science 18, 988-991.
3. DRYJA, T.P., MCGEE, T.L., BERSON, E.L., FISHMAN, G.A., SANDBERG, M.A., ALEXANDER, K.R., DERLACKI, D.J. & RAJAGOPALAN, A.S. (2005). Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proceedings of the National Academy of Science USA 102, 4884-4889.
4. GREGG, R.G., MUKHOPADHYAY, S., CANDILLE, S.I., BALL, S.L., PARDUE, M.T., MCCALL, M.A. & PEACHEY, N.S. (2003). Identification of the gene and the mutation responsible for the mouse nob phenotype. Investigative Ophthalmology & Visual Science 44, 378-384.
5. KUFFLER, S.W. (1953). Discharge patterns and functional organization of mammalian retina. Journal of Neurophysiology 16, 37-68.
6. KUNISHIMA, N., SHIMADA, Y., TSUJI, Y., SATO, T., YAMAMOTO, M., KUMASAKA, T., NAKANISHI, S., JINGAMI, H. & MORIKAWA, K. (2000). Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor. Nature 407, 971-977.
7. MASU, M., IWAKABE, H., TAGAWA, Y., MIYOSHI, T., YAMASHITA, M., FUKUDA, Y., SASAKI, H., HIROI, K., NAKAMURA, Y., SHIGEMOTO, R., TAKADA, M., NAKAMURA, K., NAKAO, K., KATSUKI, M. & NAKANISHI, S. (1995). Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell 80, 757-765.
8. MCGILL, T.J., DOUGLAS, R.M., LUND, R.D. & PRUSKY, G.T. (2004). Quantification of spatial vision in the Royal College of Surgeons rat. Investigative Ophthalmology & Visual Science 45, 932-936.
9. MORGANS, C.W., BAYLEY, P.R., OESCH, N.W., REN, G., AKILESWARAN, L. & TAYLOR, W.R. (2005). Photoreceptor calcium channels: Insight from night blindness. Visual Neuroscience 22, 561-568.
10. MORGANS, C.W., REN, G. & AKILESWARAN, L. (2006). Localization of nyctalopin in the mammalian retina. European Journal of Neuroscience 23, 1163-1171.
11. NIRENBERG, S., CARCIERI, S.M., JACOBS, A.L. & LATHAM, P.E. (2001). Retinal ganglion cells act largely as independent encoders. Nature 411, 698-701.
12. NIRENBERG, S. & MEISTER, M. (1997). The light response of retinal ganglion cells is truncated by a displaced amacrine circuit. Neuron 18, 637-650.
13. O'CONNOR, E., ALLEN, L.E., BRADSHAW, K., BOYLAN, J., MOORE, A.T. & TRUMP, D. (2006). Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. British Journal of Ophthalmology 90, 653-654.
14. PARDUE, M.T., MCCALL, M.A., LAVAIL, M.M., GREGG, R.G. & PEACHEY, N.S. (1998). A naturally occurring mouse model of X-linked congenital stationary night blindness. Investigative Ophthalmology & Visual Science 39, 2443-2449.
15. PINTO, L.H., VITATERNA, M.H., SHIMOMURA, K., SIEPKA, S.M., MCDEARMON, E.L., FENNER, D., LUMAYAG, S.L., OMURA, C., ANDREWS, A.W., BAKER, M., INVERGO, B.M., OLVERA, M.A., HEFFRON, E., MULLINS, R.F., SHEFFIELD, V.C., STONE, E.M. & TAKAHASHI, J.S. (2005). Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Visual Neuroscience 22, 619-629.
16. PINTO, L.H., VITATERNA, M.H., SIEPKA, S.M., SHIMOMURA, K., LUMAYAG, S., BAKER, M., FENNER, D., MULLINS, R.F., SHEFFIELD, V.C., STONE, E.M., HEFFRON, E. & TAKAHASHI, J.S. (2004). Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Research 44, 3335-3345.
17. RENTERIA, R.C., TIAN, N., CANG, J., NAKANISHI, S., STRYKER, M. & COPENHAGEN, M. (2006). Intrinsic ON responses of the retinal OFF pathway are suppressed by the ON pathway. Journal of Neuroscience 26, 11857-11869
18. ROSEMOND, E., WANG, M., YAO, Y., STORJOHANN, L., STORMANN, T., JOHNSON, E.C. & HAMPSON, D.R. (2004). Molecular basis for the differential agonist affinities of group III metabotropic glutamate receptors. Molecular Pharmacology 66, 834-842.
19. SAGDULLAEV, B.T. & MCCALL, M.A. (2005). Stimulus size and intensity alter fundamental receptive-field properties of mouse retinal ganglion cells in vivo. Visual Neuroscience 22, 649-659.
20. SASZIK, S.M., ROBSON, J.G. & FRISHMAN, L.J. (2002). The scotopic threshold response of the dark-adapted electroretinogram of the mouse. The Journal of Physiology 543, 899-916.
21. SHARON, D., VOROBIOV, D. & DASCAL, N. (1997). Positive and negative coupling of the metabotropic glutamate receptors to a G protein-activated K+ channel, GIRK, in Xenopus oocytes. The Journal of General Physiology 109, 477-490.
22. SHIMBO, K., BRASSARD, D.L., LAMB, R.A. & PINTO, L.H. (1996). Ion selectivity and activation of the M2 ion channel of influenza virus. Biophysical Journal 70, 1335-1346.
23. SIEPKA, S.M. & TAKAHASHI, J.S. (2005). Forward genetic screen to identify circadian rhythm mutants in mice. Methods in Enzymology 393, 217-228.
24. SLAUGHTER, M.M. & MILLER, R.F. (1981). 2-amino-4-phosphonobutyric acid: a new pharmacological tool for retina research. Science 211, 182-185.
25. STERN-BACH, Y., BETTLER, B., HARTLEY, M., SHEPPARD, P.O., O'HARA, P.J. & HEINEMANN, S.F. (1994). Agonist selectivity of glutamate receptors is specified by two domains structurally related to bacterial amino acid-binding proteins. Neuron 13, 1345-1357.
26. VITATERNA, M.H., PINTO, L.H. & TAKAHASHI, J.S. (2006). Large-scale mutagenesis and phenotypic screens for the nervous system and behavior in mice. Trends in Neuroscience 29, 233-240.
27. ZEITZ, C., VAN GENDEREN, M., NEIDHARDT, J., LUHMANN, U.F., HOEBEN, F., FORSTER, U., WYCISK, K., MATYAS, G., HOYNG, C.B., RIEMSLAG, F., MEIRE, F., CREMERS, F.P. & BERGER, W. (2005). Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Investigative Ophthalmology & Visual Science 46, 4328-4335.