Primary Identifier | MGI:6118044 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Reep6 |
Strain of Origin | C57BL/6 | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR-Cas9 mediated mutagenesis created a T to C missense mutation at position 404 (c404T>C) in exon 4 resulting in a proline substitution for leucine at amino acid 135 (pLeu135Pro) that has been identified in patients with Retinitis Pigmentosa. Western blot analysis indicates that protein levels in the retina are similar to that in wild-type mice. |