Primary Identifier | MGI:6864320 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Acd |
Strain of Origin | (C57BL/6J x SJL/J)F2 | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/cas9 endonuclease-mediated genome editing is used to delete a lysine (K82delta, AAG) and create a silent Kpnl restriction site in exon 3. The mutation is in the TEL patch of Acd (also known as TPP1). The mutation is orthologous to the human K170delta mutation identified in dyskeratosis congenita patients. |