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

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SD-Pax6Sey/MceRatmicrophthalmia  IAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Pax6Ratabnormal eye physiology  IAGP  RGD 
Pax6SeyRatabnormal eye physiology  IAGP  RGD 
Pax6Ratabnormal nose morphology  IAGP  RGD 
Pax6SeyRatabnormal nose morphology  IAGP  RGD 
Pax6Ratabnormal retina morphology  IAGP  RGD 
SD-Pax6Sey/MceRatabnormal retina morphology  IAGP  RGD 
SD-Pax6Sey/MceRatmicrophthalmia  IAGP  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