Mice carrying the mutant Hfe allele were crossed with a Cre deleter strain. Offspring mice retain the neomycin resistance cassette but lack exons 3-5 that encode for the alpha-2, the alpha-3 and transmembrane domains. RT-PCR revealed an abberant splace transcript that connects exon 2 to exon 6. Immunoblots on liver extracts demonstrated that no protein is produced from the mutant allele. (J:132141)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count