An Arg789Cys mutation (a C-to-T transition in exon 41) was engineered in the murine type II collagen (Col2a1). A second silent mutation was introduced to create a SmaI cleavage site in exon 41 used for monitoring the presence of the transgene. Five founders were created and progeny from two of these founders were analyzed. (J:112540)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count