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)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count