The targeting vector was designed to replace exon 2 with a PGK-neo cassette. Exon 2 contains the initiation codon and is required for all splice variants. Removal of exon 2 forces downstream exons out of frame. Testing by immunohistochemistry confirms the absence of protein. (J:222131)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count