The endogenous exon 8 was replaced with a mutant version containing a nonsense mutation at codon 445. A single loxP site remained in intron 7 after the excision of a floxed neo cassette. Though the mutation was expected to generate a truncated transcript, message was undetected by RT-PCR analysis of homozygous mutant MEFs. (J:87684)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count