A floxed neo cassette was inserted upstream of the coding region. An A to G transition was inserted into exon 2 (the first coding exon) giving rise to an R389G mutation. Cre-mediated recombination removed the neo cassette. (J:169841)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count