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Dystrophin mutations in animals

(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.

Exon DNA RNA Protein Phenotype Reference DNA/RNA Technique
? ? ? 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
4 190A>T 190a>u Lys64X sapjeta222a zebrafish Bassett DNA RT-PCR
7 739-2a>g 739-857del Val495del+fs DMD dog Sharp RNA RT-PCR
10 1306A>T 1305-1357del Gly366-383delfs+2X397 mdx5Cv mouse Im RNA RT-PCR
23 3185C>T   Gln993X mdx mouse Sicinski RNA
43 6326+2a>t 6326-6357del Asn2040del+fs mdx2Cv mouse Im RNA RT-PCR
52 7751-?_7868+?del

[2.5 kb HincII- fragment replaced]

 ? ?fs; no Dp427-forms, Dp260 and Dp140 / normal Dp116 and Dp70 mdx52 Araki RNA RT-PCR
53 7925C>T   Gln2573X mdx4Cv mouse Im RNA RT-PCR+SEQ
66 9772-16t>a [9772-9857del; +cry] Thr3188[del+fs; (fs)] mdx3Cv mouse Cox RNA RT-PCR

Legend:
Sequence variations are described basically as recommeded (den Dunnen JT and Antonarakis SE [2000] 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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