Primary Identifier | MGI:7711300 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence, Hypomorph | Gene | Thoc2 |
Strain of Origin | C57BL/6JArc | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/cas9 mediated recombination using guide RNAs targeting introns 36 and 38 created a deletion removing exons 37 and 38. The deletion is in-frame and produces a truncated protein that is expressed at higher levels compared to full length wild-type protein in controls. The deletion is homologous to one seen in human patients. |