The targeting vector contained a loxP-flanked neo selection cassette in intron 1 and the exon coding for the beta C-terminal variant replacing the gamma variant specific sequence at the 3' end of exon 2. A third loxP site was placed downstream of the beta exon. Subsequently, cre-mediated recombination removed the neo cassette and the remainder of exon 2 and the beta exon, creating an allele that knocks out all three (alpha, beta, gamma) splice variants. (J:232822)
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