An IRES-beta geo expression cassette was inserted into exon 2. A fusion transcript is expressed from this allele that consists of the inserted sequences from the expression cassette. This transcript cannot express normal protein due to the inclusion of a stop codon, resulting in a shift of all three reading frames. (J:58601)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count