An alanine to valine point mutation was inserted into exon 11 (A353V) and an IRES neo cassette was inserted in the 3' untranslated region via homologous recombination. (J:91485, J:149894)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count