Allele/Variant

Tg(DMWD,DMPK*,SIX5)1177Ggo

Species
Mus musculus
Symbol
Tg(DMWD,DMPK*,SIX5)1177Ggo
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • DM300-1177
Description
This 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.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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