A loxP site flanked neomycin resistance gene and STOP cassette pair was inserted into intron 2. Exon 3 was replaced with a version containing a mutation that changes aspartic acid codon 83 into a valine codon (p.D83V). This creates a conditional-ready null allele that expresses the full mutated transcript only after cre-mediated removal of the neo and STOP cassettes. (J:265465)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count