CRISPR/Cas9 endonuclease-mediated genome editing was used to insert a T4709M missense mutation in exon 96 of the gene. The mutation is predicted to result in an amino acid substitution at position 4709 altering threonine to methionine (c.14117 C to T). The mutation is orthologous to the human variant T4706M. Sequencing of N1 mice revealed only the c.14117 CtoT, p.T4706M was incorporated, and not the silent c.14100 C to T change. (J:275500)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count