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Strain Registration

Strain: SD-Pax6Sey/Mce

Symbol: SD-Pax6Sey/Mce
Strain: SD-Pax6Sey
Substrain: Mce
RGD ID: 2325754
Citation ID: RRID:RGD_2325754
Ontology ID: RS:0002411
Alleles: Pax6Sey;   Pax6
Previously known as: rSey; SD-Pax6Sey/Mce
Type: mutant
Source: Department of Ophthalmology, Okayama University Medical School, Okayama, Japan
Origin: Autosomal dominant mutation that arose spontaneously in SD rats. Genomic DNA analysis from mutants revealed a single base(G) insertion in the exon generating a novel 5' donor splice site. This led to the internal a 602-bp deletion of Pax6 mRNA.
Last Known Status: Unknown
Position
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2392,128,772 - 92,157,022RGD_MAPPER_PIPELINEmRatBN7.2
Rnor_6.0395,700,241 - 95,728,682RGD_MAPPER_PIPELINERnor6.0
Rnor_5.03102,320,059 - 102,348,223RGD_MAPPER_PIPELINERnor5.0
RGSC_v3.4391,127,605 - 91,149,178RGD_MAPPER_PIPELINERGSC3.4





Disease Annotations     Click to see Annotation Detail View
microphthalmia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype

References

References - curated
# Reference Title Reference Citation
1. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Matsuo T, etal., Nat Genet. 1993 Apr;3(4):299-304.
2. RGD Strain RSO annotation pipeline RGD Automated Pipelines

Region

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Pax6Sey-var1 chr3 92152512 92152513 - G insertion mRatBN7.2
Pax6Sey-var1 chr3 95724051 95724052 - G insertion Rnor_6.0

Additional Information

RGD Curation Notes
Note Type Note Reference
strain_characteristics Heterozygotes (rSey/+) have small eyes and homozygotes (rSey/rSey) do not develop nasal placodes and lens at eleven days post coitum 1601213
strain_other Mutations reported are within the introns mainly in the 3' acceptor sites or 5' donor sites of exon-intron junctions 1601213

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-23 SD-Pax6Sey/Mce    SD-Pax6SeyMce    Symbol updated 68687 APPROVED
2017-02-23 SD-Pax6Sey/Mce    SD-Pax6SeyMce    Symbol updated 68687 APPROVED
2015-01-20 SD-Pax6SeyMce    SD-Pax6Sey    Symbol updated 68687 APPROVED
2015-01-20 SD-Pax6SeyMce    SD-Pax6Sey    Name updated 68913 APPROVED
2015-01-20 SD-Pax6SeyMce    SD-Pax6Sey    Symbol updated 68687 APPROVED
2015-01-20 SD-Pax6SeyMce    SD-Pax6Sey    Name updated 68913 APPROVED
2014-03-25 SD-Pax6Sey    SD-Pax6Sey    Symbol updated 68687 APPROVED
2014-03-25 SD-Pax6Sey    SD-Pax6Sey    Name updated 68913 APPROVED
2014-03-25 SD-Pax6Sey    SD-Pax6Sey    Name updated 68913 APPROVED
2014-03-25 SD-Pax6Sey    SD-Pax6Sey    Symbol updated 68687 APPROVED