| Primary Identifier | MGI:7516354 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Rab33b |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated an A to C change at position 136 (c.136A>C) resulting in a lysine to glutamine substitution at amino acid 46 (p.K46Q). A few silent nucleotide changes upstream of the mutation were also introduced to facilitate genotyping. This is a disease-causing variant identified in a consanguineous family diagnosed with Smith McCort dysplasia. |
