A 30 bp neural-specific exon referred to as N30 (also called the B1 insert) and the flanking introns were replaced with a PGK-neo cassette via homologous recombination. Deletion of the B1 insert was confirmed by RNA analysis of neural tissues. Northern blot of various tissues from homozygous mutant mice showed a significant decrease in gene expression. Western blot analysis showed a significant decrease in protein expression in both embryonic and adult mutant mice, including a decrease of 88% in the heart, of 65% in the brain, and of 64% in the lung. This is a mildly hypomorphic allele. (J:60967)
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