The pBJR2 vector was used to insert a 1.5-kb neo cassette and a 500-nt Pgk enhancer and promoter fragment in reverse orientation such that it replaced the Rasgrf1 repeats located downstream of the differentially methylated domain. Removal of the paternal repeats caused a loss of paternal allele methylation as shown by Southern blot. The enhancer insertion enabled expression of the transcript whether it was transmitted maternally or paternally. Expression was due entirely to the presence of the Pgk-enhancer and promoter insertion and not due to a repeat deletion. (J:103751, J:185711)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Intragenic deletion
--
1
--
5

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

Title
PMID
Journal
Year
IF
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