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Pax62Neu
Chemically induced Allele Detail
Summary
Symbol: Pax62Neu
Name: paired box 6; 2, Neuherberg
MGI ID: MGI:2156812
Synonyms: ENU-5011
Gene: Pax6  Location: Chr2:105499245-105527709 bp, + strand  Genetic Position: Chr2, 55.31 cM
Alliance: Pax62Neu page
Mutation
origin
Strain of Origin:  (102 x C3H)F1
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation was identified as a T to C substitution at nucleotide position 2 of the intron 9 donor splice site. The isolated cDNA was 87 bp longer than wild-type due to the destruction of the endogenous splice site and the use of a cryptic splice site. The resulting protein was wild-type up to codon 269 of exon 9 and included 23 amino acids and a stop codon from the inclusive inton. The mutation resides in the homeobox region of the protein. (J:73625)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pax6 Mutation:  94 strains or lines available
Notes
Genbank Accession ID: Y19193
References
Original:  J:63651 Favor J, et al., Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome. 2000 Jul;11(7):520-5
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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory