A c.346G>A base change, corresponding to an A116T substitution, was introduced into exon 5. A loxP flanked neomycin resistance cassette was removed via cre-mediated recombination. (J:237759)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count