A neomycin selection cassette replaced a 1.2-kb region that contained the transcriptional start site uniquely associated with the P1 promoter of this gene loci. This deletion region also contained exon H, an untranslated upstream exon that defines a liver specific mRNA isoform for this loci. Northern blot confirmed that no mRNA isoforms containing exon H were detected in the liver of homozygous mice, while levels of another mRNA isoform were present at normal levels. Total mRNA levels for this gene were depressed about 4-fold in the liver, slightly decreased in the spleen and were largely unchanged in the brain, liver, lung and kidney. (J:140702)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count