LoxP sites were inserted to flank exon 3 according to nomenclature in J:29234. An FRT-flanked neomycin resistance cassette was removed prior to ES cell injection. Deletion of exon 3 would cause a reading frame shift and introduce a translational stop codon at position 132, truncating the RBD, CRD and kinase domains. (J:121660)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count