RGD Reference Report - A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. - Rat Genome Database

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A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.

Authors: Matsuo, T  Osumi-Yamashita, N  Noji, S  Ohuchi, H  Koyama, E  Myokai, F  Matsuo, N  Taniguchi, S  Doi, H  Iseki, S 
Citation: Matsuo T, etal., Nat Genet. 1993 Apr;3(4):299-304.
RGD ID: 1601213
Pubmed: PMID:7981749   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0493-299   (Journal Full-text)

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 eye rudiments but did not migrate any further to the nasal rudiments, suggesting that the Pax-6 gene is involved in conducting migration of neural crest cells from the anterior midbrain.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
microphthalmia  IAGP 1601213 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
abnormal eye physiology  IAGP 1601213; 1601213 RGD 
abnormal nose morphology  IAGP 1601213; 1601213 RGD 
abnormal retina morphology  IAGP 1601213; 1601213 RGD 
microphthalmia  IAGP 1601213 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pax6  (paired box 6)
Pax6Sey  (paired box gene 6, small eye mutation)

Strains
SD-Pax6Sey/Mce  (NA)


Additional Information