(last modified February 10, 2004)
Besides the mutations listed below, targeted disruptions of the DMD-gene have been made. Araki et al. (1997) generated a mouse, designated mdx52, containing a disruption of exon 52 (i.e exchanged for a neo-cassette). In this mouse all dystrophin isoforms except Dp71 are disrupted.
|?||?||?||70-80 kDa on Western blot||Japanese Spitz dogs.||Jones (2004)||protein|
|1||del Dp427m + Dp427p||no Dp427m||no Dp427m||DMD cat||Winand||DNA||RT-PCR|
[2.5 kb HincII- fragment replaced]
|?||?fs; no Dp427-forms, Dp260 and Dp140 / normal Dp116 and Dp70||mdx52||Araki||RNA||RT-PCR|
|66||9772-16t>a||[9772-9857del; +cry]||Thr3188[del+fs; (fs)]||mdx3Cv mouse||Cox||RNA||RT-PCR|
Sequence variations are described basically as recommeded (den Dunnen JT and Antonarakis SE  Hum.Mut. 15:7-12), with the recently suggested additions (see Nomenclature). Exon: exon numbering according to Roberts et al. (1993), if in bold, the mutation has been identified more than once. DNA: mutation at DNA level. Nucleotide numbering is according to the human dystrophin cDNA reference sequence, with intronic nucleotides indicated with a + or - with respect to nearest coding nucleotide. RE-site: the mutation creates (+) or destroys (-) a resctriction enzyme recognition site. RNA: effect of mutation on RNA, (=) = RNA change identical to DNA change, effect on splicing unknown (but probably none), spl? = effect on splicing likely but unproven, +cry = activation of cryptic splice site. Protein: deduced effect of mutation on protein (usually no experimental proof): fs = causes frame shift mutation, X = stop mutation, ? = unknown. Phenotype: description of animal model. Reference: publication describing animal and mutation. DNA/RNA: mutation detected in; DNA = DNA, RNA = RNA and DNA. Technique: technique used for mutation detection: RT-PCR = reverse transcription and PCR, SEQ = sequence analysis.
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