Heatr5b^em1Jgg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Heatr5b^em1Jgg
• Name: HEAT repeat containing 5B; endonuclease-mediated mutation 1, Joseph G Gleeson
• MGI ID: MGI:7541217
• Gene: Heatr5b Location: Chr17:79060327-79142793 bp, - strand Genetic Position: Chr17, 49.54 cM
• Alliance: Heatr5b^em1Jgg page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a 1 bp insertion resulting in a frameshift allele in constitutively spliced exon 28 of 36, c.4385dupA; p.Asp1462GlufsTer15. (J:341546)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Heatr5b Mutation: 89 strains or lines available

References

• Original: J:341546 Ghosh SG, et al., Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. Eur J Hum Genet. 2021 Jun;29(6):957-964
• All: 1 reference(s)