Pax6tm1Gfs
Targeted Allele Detail
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Symbol: |
Pax6tm1Gfs |
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
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Alliance: |
Pax6tm1Gfs page
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Aniridia in Pax6tm1Gfs/Pax6+ and Pax6tm1Gfs/Pax6tm1Gfs mice
Show the 3 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:76576
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Parent Cell Line: |
AB1 (ES Cell)
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Strain of Origin: |
129S7/SvEvBrd-Hprt1+
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Allele Type: |
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Targeted (Null/knockout) |
Mutation: |
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Disruption caused by insertion of vector
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Pax6 Mutation: |
90 strains or lines available
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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) |
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