A floxed PGK-neo cassette was inserted in reverse direction into intron 1 and an additional loxP site was inserted into intron 3. PCR genotyping was used to confirm insertion. Authors state that this is a hypomorphic allele. Western blot analysis of extracts from brain tissue confirmed a 20% to 40% reduction in protein expression that can be corrected by the removal of the neo cassette. (J:125594)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count