4.9 kb of sequence containing exons 2-8, encoding amino acids 16-331, was replaced with a hygromycin resistance gene driven by Pgk1, and resulted in a frame shift that led to an early stop codon immediately after exon 1. Immunoblotting of various tissues in mutants demonstrated the absence of protein. (J:99480, J:149653)
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