Two co-injected transgene constructs both employ the regulatory sequences of the mouse procollagen, type XI, alpha 2 (Col11a2) gene, in a DNA fragment encompassing nucleotides -742 through +380 (relative to the transcription start site), to direct expression to developing chondrocytes. One construct contains a full-length, 2.2-kb cDNA encoding a mutant mouse exostoses (multiple) 2 protein with the hereditary multiple exostoses- (HME-) associated aspartic acid-to-asparagine substitution at amino acid position 227, followed by the SV40 splice donor/acceptor and polyadenylation signal. In the second construct, the mouse cDNA is replaced by the E. coli beta-galactosidase (lacZ) coding sequence. (J:48125, J:75965)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count