A PGK-neo cassette replaced much of exon 4, including the sequence encoding the kit-binding domain and Sprouty-related COOH-terminal cystein-rich domains. RT-PCR confirmed the lack of transcript in mutant brain samples, and Western blot showed the lack of protein in mutant brain, liver, and kidney samples. (J:95263)
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