Exon 10, which encodes the third endoloop, was replaced with a PGK-neo cassette by homologous recombination. The loss of exon 10 resulted in a frameshift, thereby introducing a premature stop codon. The mutation is expected to be a null. (J:121376)
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