A targeting vector containing exons 17-20 and loxP-flanked neomycin cassette encoding the intracellular domain was inserted into the locus such that the locus constitutively expressed the 59 amino acid insert encoded by exon 19. Cre-mediated recombination removed the neomycin cassette. (J:100988)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count