Hyls1^em1Ahol
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hyls1^em1Ahol
• Name: HYLS1, centriolar and ciliogenesis associated; endonuclease-mediated mutation 1, Andrew Holland
• MGI ID: MGI:7647196
• Synonyms: Hyls1^DG
• Gene: Hyls1 Location: Chr9:35472117-35481365 bp, - strand Genetic Position: Chr9, 20.32 cM
• Alliance: Hyls1^em1Ahol page

Mutation origin

• Strain of Origin: (C57BL/6 x SJL)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:376632)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Hyls1 Mutation: 26 strains or lines available

References

• Original: J:376632 Curinha A, et al., Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome. J Cell Biol. 2025 Apr 7;224(4)
• All: 1 reference(s)