A 10 kb vector including a PGK-puro, and a duplication of the genomic region encompassing exons 9-12 were inserted downstream of exon 12. This insertion was predicted to insert multiple in-frame stop codons and to produce a nonfunctional allele. RT-PCR confirmed the absence of transcript in mutants and is concluded to be either severely hypomorphic or a null allele. (J:120824)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count