Exon 10, which codes for 40% of the hinge domain, essential to the formation of Smc heterodimers, was targeted for replacement by a tk-neo cassette. Immunoblotting of testis nuclear extracts confirmed the absence of wild-type protein. (J:96769)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count