Exon 5 was replaced with one in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 137 (R137H). A loxP-flanked neomycin resistance cassette was inserted upstream of exon 5. Cre-mediated recombination removed the neo cassette. (J:236704)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count