Molecular Image Detail

Image

Caption

A splice acceptor mutation in Rabggta causes abnormal splicing. (A) Genomic structure of the 5' end of mouse Rabggta. Exon alpha encodes 5' untranslated region. The initiation methionine (bold and underlined ATG) occurs at the 3' end of exon 1. Rabggta nucleotide sequence above is C57BL/6J-+/+ and below is C57BL/6J-Rabggta^gm/Rabggta^gm. The splice acceptor mutation is indicated by *. Rabggta exons connected by solid green lines represent normal splicing. Dashed red lines indicate exon 1 skipping in gm/gm RNA, and dotted blue lines indicate cryptic splice sites used by Rabggta^gm/Rabggta^gm. (B) RT-PCR analysis of RNA from wild-type (+/+) and mutant (Rabggta^gm/Rabggta^gm) bone marrow. The Rabggta oligonucleotides used amplified the region between exon alpha and exon 2. Each band was excised and sequenced: Normal bone marrow (+/+) shows the expected product of 486 bp (band a) (GenBank accession no. AF127656), and a product (638 bp) retaining intron alpha (band b) (GenBank accession no. AF127658). gm/gm bone marrow shows three bands: Band c (429 bp) (GenBank accession no. AF127657) represents exon 1 skipping; band b' (638 bp) (GenBank accession no. AF127659) retains intron alpha; band d (557 bp) (GenBank accession no. AF127662) represents utilization of cryptic splice sites in intron alpha and exon 1. (C) Sequence analysis of Rabggta genomic DNA. Arrows indicate the splice acceptor mutation: +/+ = G, Rabggta^gm/Rabggta^gm = A, Rabggta^gm/+ exhibits both nucleotides (G and A).

Associated
Alleles

Symbol	Name
Rabggta^gm	Rab geranylgeranyl transferase, a subunit; gunmetal

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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