Insertion of a neomycin cassette into exon 3. This disruption selectively prevents the synthesis of the alpha 1 isoform. RNAase protection analysis indicated that the mRNA encoding the alpha 1 isoform was mutated in this allele, and the alpha 2 isoform was transcribed normally. (J:13574)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count