The insertion of a neomycin selection cassette deleted exons 3 through 6, encoding approximately 80% of the core region of the protein. Northern blot analysis of total RNA, using a probe corresponding to the targeted region, showed an absence of transcript in the testes of homozygous mutant mice. (J:69502)
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