Pax6<sup>Sey</sup> (paired box gene 6, small eye mutation) - Rat Genome Database

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Gene: Pax6Sey (paired box gene 6, small eye mutation) Rattus norvegicus
Analyze
Symbol: Pax6Sey
Name: paired box gene 6, small eye mutation
RGD ID: 737688
Description: Genomic DNA analysis from mutants revealed a single base (G) insertion generating a novel 5' donor splice site. Abnormal splicing between this donor site and a non-conforming downstream acceptor site led to an internal 602-bp deletion in the Pax6 mRNA, removing approximately 1/3 of the 3' end of the coding region and part of the 3'-UTR. The mutation results in nose and eye defects in Sprague Dawley (SD) rats.
ASSOCIATED WITH abnormal eye physiology; abnormal nose morphology
Type: allele  of Pax6  
Previously known as: Pax6Sey
Is Marker For: Strains:   SD-Pax6Sey/Mce  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map3 NCBI


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. Pax-6 is involved in the specification of hindbrain motor neuron subtype. Osumi N, etal., Development 1997 Aug;124(15):2961-72.

Genomics

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

Related Rat Strains
The following Strains have been annotated to Pax6Sey
SD-Pax6Sey/Mce    


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_013001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-11 Pax6Sey  paired box gene 6, small eye mutation  Pax6Sey  paired box gene 6, small eye mutation  Symbol changed 629549 APPROVED
2004-12-14 Pax6Sey  paired box gene 6, small eye mutation      Symbol and Name status set to approved 1299863 APPROVED