Gne^em1Lx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gne^em1Lx
• Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; endonuclease-mediated mutation 1, Lijun Xia
• MGI ID: MGI:7611836
• Synonyms: Gne^mt, Gne^P735R
• Gene: Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
• Alliance: Gne^em1Lx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: Proline codon 735 (CCG) in exon 12 was changed to arginine (CGG) (c.2204C>G:p.P735R) using sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation, in the N-acetylmannosamine (ManNAc) kinase domain of the encoded peptide, is the equivalent of the same human mutation associated with macrothrombocytopenia. (J:345585)

Expression

In Structures Affected by this Mutation:

2 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 Gne Mutation: 49 strains or lines available

References

• Original: J:345585 Huang L, et al., Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice. Blood Adv. 2024 Feb 27;8(4):991-1001
• All: 1 reference(s)