Primary Identifier | MGI:7336099 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence, Hypomorph | Gene | Sdccag8 |
Strain of Origin | C57BL/6 | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a C to G change at position 708 (c.708C>G) resulting in a tyrosine to X substitution at amino acid 236 (p.Y236X) in exon 7. This corresponds to the human c.696T>G p.Y232X mutation known to cause Bardet-Biedl syndrome. |