Mice with this transgenic insertion express a cDNA splice isoform of human SMN1 that lacks exon 5 under control of the ~750-bp SMN1 minimal promoter. The transgene is stably integrated as a single copy into intron 13 of the Smg6 locus. Expression of the transgene has been detected in all tissues analyzed. (J:169366)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count