| Primary Identifier | MGI:7647196 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Hyls1 |
| Strain of Origin | (C57BL/6 x SJL)F2 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | The Hyls1(DG) allele was generated using CRISPR/Cas9 endonuclease-mediated homology-directed repair (HDR) genome editing. A single guide RNA [5'-CTACTCGGTCTATCTTGCCC-3'] was used to introduce a GAC-GGT point mutation in exon 3 of the HYLS1, centriolar, and ciliogenesis associated (Hyls1) gene on chromosome 9. The mutation recapitulates features of the Hydrolethalus syndrome, an autosomal recessive ciliopathy caused by a mutation that leads to a change from an aspartic acid to a glycine in the amino acid 211 in humans. |
