This transgene consists of the chicken betaB1-crystallin promoter followed by the human gammaC-crystallin cDNA with a 5 bp duplication in exon 2 (c.119_123dup), the mouse betaA3/A1-crystallin gene splice site including the last 1055 bp of exon 5, intron 5, and exon 6 and the polyadenylation signal. The 5 bp insertion is predicted to result in an amino acid sequence frameshift that produces a new protein comprised of the first 41 amino acids of CRYGC followed by 62 novel amino acids and a new stop codon. (J:181433)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count