A beta-geo trap vector inserted into intron 6 of the gene and deleted exon 7, intron 7 and a portion of exon 8. The deletion is predicted to truncate the protein at amino acid 221, which is upstream of two potential transmembrane domains predicted to be necessary for protein function. Only expression of mutant transcript was detected by Northern blots of RNA from the small intestine of homozygotes. (J:128927)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count