Exon 3 was removed by cre mediated recombination in the germline. Deletion of exon 3 was expected to cause a reading frame shift and introduce a translational stop codon at position 132, truncating the RBD, CRD and kinase domains. Western blot confirmed ablation of the protein. (J:121660)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count