A portion of the part of the gene coding for the compaction region, one of the active domains of the protein, was replaced with synthetic sequence where 13 selected lysine and arginine codons had been changed to alanine codons. This was done through CRISPR/Cas9 endonuclease-assisted homologous recombination where the transgene vector, two sgRNAs and Cas9 mRNA were injected into C57BL/6 zygotes. The allele codes for a protein with redsuced activity. (J:242063)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count