Literature DB >> 6600521

Discrete visual defects in pearl mutant mice.

G W Balkema, N J Mangini, L H Pinto.   

Abstract

The mutant mouse pearl, characterized by its hypopigmentation, has a specific functional defect in a sensory system--the retina. The intact pearl mouse has reduced sensitivity in the dark-adapted condition. Normal sensitivity is restored by isolation and superfusion of the retina with bicarbonate-buffered Ringer solution, suggesting that the retinal expression of the pearl mutation depends on a diffusible substance. The pearl phenotype is described as a possible model for human congenital stationary night blindness.

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Year:  1983        PMID: 6600521     DOI: 10.1126/science.6600521

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  10 in total

Review 1.  Sequences associated with human iris pigmentation.

Authors:  Tony Frudakis; Matthew Thomas; Zach Gaskin; K Venkateswarlu; K Suresh Chandra; Siva Ginjupalli; Sitaram Gunturi; Sivamani Natrajan; Viswanathan K Ponnuswamy; K N Ponnuswamy
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

2.  Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Authors:  Mirna Assoum; Christophe Philippe; Bertrand Isidor; Laurence Perrin; Periklis Makrythanasis; Neal Sondheimer; Caroline Paris; Jessica Douglas; Gaetan Lesca; Stylianos Antonarakis; Hanan Hamamy; Thibaud Jouan; Yannis Duffourd; Stéphane Auvin; Aline Saunier; Amber Begtrup; Catherine Nowak; Nicolas Chatron; Dorothée Ville; Kamiar Mireskandari; Paolo Milani; Philippe Jonveaux; Guylène Lemeur; Mathieu Milh; Masano Amamoto; Mitsuhiro Kato; Mitsuko Nakashima; Noriko Miyake; Naomichi Matsumoto; Amira Masri; Christel Thauvin-Robinet; Jean-Baptiste Rivière; Laurence Faivre; Julien Thevenon
Journal:  Am J Hum Genet       Date:  2016-11-23       Impact factor: 11.025

3.  rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.

Authors:  T Sagai; T Koide; M Endo; K Tanoue; Y Kikkawa; H Yonekawa; S Ishiguro; M Tamai; Y Matsuda; S Wakana; T Shiroishi
Journal:  Mamm Genome       Date:  1998-01       Impact factor: 2.957

4.  Developmental genetics of the retina: evidence that the pearl mutation in the mouse affects the time course of natural cell death in the ganglion cell layer.

Authors:  R Linden; L H Pinto
Journal:  Exp Brain Res       Date:  1985       Impact factor: 1.972

5.  Receptive field organization of retinal ganglion cells in the spastic mutant mouse.

Authors:  C Stone; L H Pinto
Journal:  J Physiol       Date:  1992-10       Impact factor: 5.182

6.  Calcium binding in pigmented and albino eyes.

Authors:  U C Dräger
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

7.  Pupillary constriction to darkness.

Authors:  M J Price; H S Thompson; G F Judisch; J J Corbett
Journal:  Br J Ophthalmol       Date:  1985-03       Impact factor: 4.638

8.  The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Authors:  Birthe Jessen; Sebastian F N Bode; Sandra Ammann; Subarna Chakravorty; Graham Davies; Jana Diestelhorst; Melissa Frei-Jones; William A Gahl; Bernadette R Gochuico; Matthias Griese; Gillian Griffiths; Gritta Janka; Christoph Klein; Tamara Kögl; Karin Kurnik; Kai Lehmberg; Andrea Maul-Pavicic; Andrew D Mumford; David Pace; Nima Parvaneh; Nima Rezaei; Geneviève de Saint Basile; Annette Schmitt-Graeff; Klaus Schwarz; Gulsun T Karasu; Barbara Zieger; Udo Zur Stadt; Peter Aichele; Stephan Ehl
Journal:  Blood       Date:  2013-02-12       Impact factor: 22.113

Review 9.  Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development.

Authors:  Inna Hughes; Isolde Thalmann; Ruediger Thalmann; David M Ornitz
Journal:  Brain Res       Date:  2006-03-09       Impact factor: 3.252

10.  Elevated dark-adapted thresholds in hypopigmented mice measured with a water maze screening apparatus.

Authors:  J M Hayes; G W Balkema
Journal:  Behav Genet       Date:  1993-07       Impact factor: 2.805

  10 in total

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