A series of point mutations were inserted into the basic DNA-binding region in exon 19 (coding exon 18), changing RLR to GHG (R611G, L612H, R613G). A floxed neomycin resistance gene was inserted into the locus and subsequently removed via transient cre expression. (J:120411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count