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Targeted Allele Detail
Symbol: Pax6tm1Gfs
Name: paired box 6; targeted mutation 1, Grady F Saunders
MGI ID: MGI:2674289
Synonyms: e5a, Pax6(5a)-
Gene: Pax6  Location: Chr2:105668900-105697364 bp, + strand  Genetic Position: Chr2, 55.31 cM
Aniridia in Pax6tm1Gfs/Pax6+ and Pax6tm1Gfs/Pax6tm1Gfs mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:76576
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Allele Type:    Targeted (Null/knockout)
Mutation:    Disruption caused by insertion of vector
Mutation detailsAlternative splicing of the endogenous locus yields a transcript that includes exon 5a and encodes a protein with an additional 14 residues. Isoform-specific ablation was achieved by the replacement of exon 5a with a single loxP site. Transcript including exon 5a was undetected by RT-PCR analysis of homozygous mutant mice, which also showed the presence of the endogenous transcript that lacks exon 5a. (J:76576)
View phenotypes and curated references for all genotypes (concatenated display).
In Mice Carrying this Mutation: 14 assay results
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pax6 Mutation:  43 strains or lines available
Original:  J:76576 Singh S, et al., Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. Proc Natl Acad Sci U S A. 2002 May 14;99(10):6812-5
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.15
The Jackson Laboratory