CRISPR/cas9 mediated recombination using a single guide RNA created a 576 bp in-frame deletion in exon 4. Protein is expressed in the palate shelf mesenchyme but mislocalized and concentrated in various regions in the cells. (J:324294)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count