Pax6^tm1Gfs
Targeted Allele Detail

Summary

• Symbol: Pax6^tm1Gfs
• Name: paired box 6; targeted mutation 1, Grady F Saunders
• MGI ID: MGI:2674289
• Synonyms: e5a, Pax6(5a)^-
• Gene: Pax6 Location: Chr2:105499245-105527709 bp, + strand Genetic Position: Chr2, 55.31 cM
• Alliance: Pax6^tm1Gfs page

Aniridia in Pax6^tm1Gfs/Pax6⁺ and Pax6^tm1Gfs/Pax6^tm1Gfs mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76576
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Disruption caused by insertion of vector
• Mutation details: Alternative 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)

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 94 strains or lines available

References

• 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)