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Chemically induced Allele Detail
Symbol: Opa1M1Bewi
Name: optic atrophy 1; mutation 1, Bernd Wissinger
MGI ID: MGI:4412032
Synonyms: Opa1329-355del, Opa1enu
Gene: Opa1  Location: Chr16:29579334-29654884 bp, + strand  Genetic Position: Chr16, 20.65 cM, cytoband B2
Strain of Origin:  C3HeB/FeJ
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsENU induced a G to A transition in intron 10 (c.1065+5 G->A) that disrupts the splicing and produce a transcript that lacks the 27 amino acids. These amino acids are coded by exon 10 and are an integral part of the GTPase domain. Western blot did not detect a protein product produced from this allele and a 50% reduction in endogenous protein levels in heterozygous mice. (J:154966)
Inheritance:    Dominant
View phenotypes 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
Carrying any Opa1 Mutation:  24 strains or lines available
Original:  J:154966 Alavi MV, et al., A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain. 2007 Apr;130(Pt 4):1029-42
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
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