This allele contains a 2.6 kb deletion of a region containing exons 1 and 2 and ~1 kb of the sequence upstream of exon 1. mRNA expressed from this allele was not detected in colon and lung from both hemizygous males and homozygous females in contrast to wild-type controls. No encoded protein was found in colon and lung from homozygous females as evident from immunofluorescence studies. The mRNA was not detectable in normal wild-type mouse mammary gland. In colon and lung of homozygous females, there were no major compensatory changes in the expression of any of the 12 amino acid transporter mRNAs examined. (J:226105)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count