The transgene insert contains the following elements: human COL2A1 promoter (first 6.1 kb upstream of transcription start site), exon 1, bp 2388-2696 of intron 1 and the beta-galactosidase reporter gene. The intron 1 sequence contains Sox9-binding enhancers. (J:41294)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count