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Pax6Aey80
Chemically induced Allele Detail
Summary
Symbol: Pax6Aey80
Name: paired box 6; abnormality of the eye 80
MGI ID: MGI:5511011
Gene: Pax6  Location: Chr2:105499245-105527709 bp, + strand  Genetic Position: Chr2, 55.31 cM
Alliance: Pax6Aey80 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis small eye mutation was identified in offspring of ENU treated mice. A 141 bp insert was found in the mRNA between exons 7 and 8 as a result of a G to A transition at position 1171 in intron 7 4 bp downstream of a new splice site. Thirty new amino acids followed by 3 stop codons are encoded. The paired box domain remains intact but the homeodomain is lost in the resulting protein. (J:196657)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pax6 Mutation:  94 strains or lines available
References
Original:  J:196657 Puk O, et al., Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon. Mol Vis. 2013;19:877-84
All:  1 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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory