A G-to-T missense mutation (chr7:44,595,588, mm10) is introduced to exon 2 using CRISPR/cas9 methodologies and a gRNA targeting ACGCAGCCCCACGAAGTGACGG. The mutation resulted in a glycine-to-valine mutation (p.G434V). (J:327327)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count