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. Intergenerational instability of CTG size is seen, with the majority of descendants showing expansion of +1 to +60 CTG in one generation. A greater amplification in CTG repeats is seen after paternal transmission (by a mean of +20 CTG) than after maternal transmission (mean of +9 CTG) and even larger expansions of several hundred repeats (even 1000+) have been seen in subsequent generations. (J:168896)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x DBA/2)F1
--
Insertion
--
3
--
22

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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