Hgsnat^em1Scher
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hgsnat^em1Scher
• Name: heparan-alpha-glucosaminide N-acetyltransferase; endonuclease-mediated mutation 1, Stephanie Cherqui
• MGI ID: MGI:8329938
• Gene: Hgsnat Location: Chr8:26434481-26466781 bp, - strand Genetic Position: Chr8, 14.22 cM
• Alliance: Hgsnat^em1Scher page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mediated recombination deleted exon 2. Deletion of exon 2 causes a frameshift introducing early stop codons in exons 3 and 4. (J:381685)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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 Hgsnat Mutation: 39 strains or lines available

References

• Original: J:381685 Badell-Grau RA, et al., Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model. Cell Transplant. 2025 Jan-Dec;34:9636897251323966
• All: 1 reference(s)