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Pax64Neu
Chemically induced Allele Detail
Summary
Symbol: Pax64Neu
Name: paired box 6; 4, Neuherberg
MGI ID: MGI:2156741
Synonyms: ENU-5045
Gene: Pax6  Location: Chr2:105499245-105527709 bp, + strand  Genetic Position: Chr2, 55.31 cM
Alliance: Pax64Neu 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 in exon 10, nucleotide position 979. The resulting protein has a Ser to Pro substitution at amino acid position 273. 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).
Disease models
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Expression
In Mice Carrying this Mutation: 11 assay results
In Structures Affected by this Mutation: 6 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:  90 strains or lines available
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:  6 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
03/19/2024
MGI 6.23
The Jackson Laboratory