Exon 28 was replaced with one containing a mutation that changes glutamic acid codon 1605 to a glutamine codon (p.E1605Q). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 27 was removed through subsequent cre-mediated recombination. (J:279595)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count