Homologous recombination was used to introduce a T1326C point mutation resulting in a V370A substitution in the protein in exon 12 and a floxed neo cassette in the untranslated region of exon 12. Cre mediated recombination removed the neo cassette. (J:193816)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count