Tg(Ckmm-Dmd)2Chmb Transgene Detail MGI Mouse (MGI:2387966)

Tg(Ckmm-Dmd)2Chmb
Transgene Detail

Summary

Symbol:	Tg(Ckmm-Dmd)2Chmb
Name:	transgene insertion 2, Jeffrey S Chamberlain
MGI ID:	MGI:2387966
Synonyms:	delta330, delta330 Line 230-66, delta71-71
Transgene:	Tg(Ckmm-Dmd)2Chmb Location: unknown
Alliance:	Tg(Ckmm-Dmd)2Chmb page

Transgene
origin

Strain of Origin:

C57BL/6J x SJL/J

Transgene
description

Transgene Type:

Transgenic (Inserted expressed sequence)

Mutation:

Insertion

Tg(Ckmm-Dmd)2Chmb expresses 1 gene

Mutation details: A brain isoform of mouse dystrophin, muscular dystrophy (Dmd) cDNA lacking exons 71-74, encompassing 330 bp corresponding to nt 10424-10752 of the published sequence (GenBank accession M68859), was used to make the transgene. Expression is driven in muscle by the creatine kinase, muscle (Ckm) regulatory sequences, including 3,300 bp of 5' flanking sequence, exon 1, intron 1 and exon 2 truncated just upstream of the translation initiation codon. By immunoblot analysis, mice of this line were shown to express the delta330 dystrophin isoform in diaphragm at a level similar to that of the normal muscle isoform in control mice, and in quadriceps at 2-5-fold the control level. Immunohistochemical analysis demonstrated correct localization of the abbreviated protein to the sarcolemmal membrane. (J:20979)

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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

Notes

This is one of three transgenic lines generated and assessed. By immunoblot analysis, mice of two other (unnamed) lines were shown to express the delta330 dystrophin isoform in quadriceps at levels similar to that of the normal muscle isoform in control mice. However, immunohistochemical analysis reveals a mosaic expression pattern in quadriceps of transgenic mice (at multiple generations), the levels in individual muscle fibers ranging from undetectable to greater than that of the muscle isoform in control fibers. In diaphragm, the delta330 isoform is detectable in only 10-20% of muscle fibers. (J:20979)

References

Original:	J:20979 Rafael JA, et al., Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum Mol Genet. 1994 Oct;3(10):1725-33
All:	4 reference(s)

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