A 1.2 kb rabbit beta-globin fragment containing a polyadenylation cassette was inserted immediately downstream of the 3.7 kb imprint control element (ICE). The insertion was designed to truncate the RNA product to 4% of its length without disrupting the ICE. While the allele maintains its imprinted status and wild-type expression levels, the truncation results in a loss of gene silencing of the Igf2r/Slc22a2/Slc22a3 cluster on the paternal chromosome. An aberrant transcript was identified by RT-PCR analysis. This splice varient involved a splice donor 53 bp downstream of the transcription start site that joined a slice acceptor of transgenic beta-globin exon 3. (J:77594)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
--
--
3

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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