A neomycin resistance and transcriptional STOP cassette flanked by loxP sites was inserted in intron 12 (upstream of the PDZ domain-coding exons). RT-PCR confirmed loss of mRNA expression containing exons 13-19 in the brain. Western blot analysis indicates loss of the two highest molecular weight isoforms. (J:289874)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count