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Tg(DMWD,DMPK*,SIX5)1177Ggo
Transgene Detail
Summary
Symbol: Tg(DMWD,DMPK*,SIX5)1177Ggo
Name: transgene insertion 1177, Genevieve Gourdon
MGI ID: MGI:5523466
Synonyms: DM300-1177
Transgene: Tg(DMWD,DMPK*,SIX5)1177Ggo  Location: unknown  
Alliance: Tg(DMWD,DMPK*,SIX5)1177Ggo page
Transgene
origin
Strain of Origin:  (C57BL/6 x DBA/2)F1
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(DMWD,DMPK*,SIX5)1177Ggo expresses 3 genes
 
Mutation detailsThis transgene consists of a 45 kb human genomic sequence extracted from lymphobalstoid cells from a patient with mild mytonic dystrophy. The 45 kb genomic sequence carries the DMWD, DMPK and SIX5 (DMAHP) genes. A part of the DMPK gene was replaced with a sequence extracted from a patient with severe mytonic dystrophy containing approximately 360 CTG repeats. In this line, the human DNA fragment shows a deletion of about 16 kb at the 5' end, eliminating the promoter and the first two exons of the DMPK gene. The founder had 362 CTG repeats. Intergenerational instability of CTG size is seen, with the majority of descendants showing expansion of +2 to +42 CTG in one generation. A greater amplification in CTG repeats is seen after paternal transmission than after maternal transmission. (J:168896)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
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
References
Original:  J:168896 Seznec H, et al., Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet. 2000 May 1;9(8):1185-94
All:  3 reference(s)

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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory