A loxP site flanked hygromycin resistance gene cassette and a mutated version of exon 12 containing two codon substitutions, p.V488A and p.L490A, were inserted via homologous recombination. The mutations in exon 12 disrupt the interaction between this protein and Cbx1, Cbx5, and Cbx3. Confocal microscopic analysis indicates that the association of the protein with the heterochromatin is disrupted in homozygous embryos at E8.5. (J:170392, J:171108)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count