1993
DOI: 10.1038/ng0493-299
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A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

Abstract: The rat small eye strain (rSey) lacks eyes and nose in the homozygote, and is similar to the mouse Sey strain with mutations in the Pax-6 gene. We isolated Pax-6 cDNA clones from an rSey homozygote library, and found an internal deletion of about 600 basepairs in the serine/threonine-rich domain. At the genomic level, a single base (G) insertion in an exon generates an abnormal 5' donor splice site, thereby producing the truncated mRNA. Anterior midbrain crest cells in the homozygous rSey embryos reached the e… Show more

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Cited by 291 publications
(203 citation statements)
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“…Mutant rats with small eyes (rSey) were identified during the course of breeding Sprague-Dawley rats [2], and it was shown that about 600 base pairs of Pax6 mRNA are deleted in these rats. At the genomic level, a single base (G) insertion in the exon produces the truncated mRNA [3]. Heterozygotes (rSey/+) have small eyes, while homozygotes (rSey/rSey) lack eyes and a nose, resulting in perinatal death.…”
Section: Mutation Of the Pax6 Gene Causes Impaired Glucose-stimulatedmentioning
confidence: 99%
“…Mutant rats with small eyes (rSey) were identified during the course of breeding Sprague-Dawley rats [2], and it was shown that about 600 base pairs of Pax6 mRNA are deleted in these rats. At the genomic level, a single base (G) insertion in the exon produces the truncated mRNA [3]. Heterozygotes (rSey/+) have small eyes, while homozygotes (rSey/rSey) lack eyes and a nose, resulting in perinatal death.…”
Section: Mutation Of the Pax6 Gene Causes Impaired Glucose-stimulatedmentioning
confidence: 99%
“…Previous work has indicated that several genes encoding homeodomain proteins are required for proper retinal development (9). pax6 (10,11), a gene encoding a homeodomain as well as a paired box, has been found to be required for proper development of several ocular tissues in several mammalian species (12)(13)(14)(15)(16)(17). In addition, the Drosophila homolog of pax6, eyeless (18), has been found not only to be required for eye development, but to be able to induce ectopic eyes when misexpressed (19).…”
mentioning
confidence: 99%
“…2A-D). In homozygous Pax6 mutant mice (Sey/Sey) and rats (rSey/rSey), development of the olfactory placode is severely compromised, which results in the absence of olfactory receptor neurons (Hill et al 1991;Matsuo et al 1993;Grindley et al 1995;Davis & Reed 1996;Jimenez et al 2000;Fig. 2E,F).…”
Section: Role Of Pax6 In the Developing Olfactory Placode And Epitheliummentioning
confidence: 99%
“…During early embryonic stages, Pax6 is expressed in the front-nasal region including the olfactory placode, which gives rise to the olfactory epithelium in later development (Matsuo et al 1993;Grindley et al 1995; Fig. 2A-D).…”
Section: Role Of Pax6 In the Developing Olfactory Placode And Epitheliummentioning
confidence: 99%