Gneem1Lx
Endonuclease-mediated Allele Detail
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| Symbol: |
Gneem1Lx |
| Name: |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; endonuclease-mediated mutation 1, Lijun Xia |
| MGI ID: |
MGI:7611836 |
| Synonyms: |
Gnemt, GneP735R |
| Gene: |
Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
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| Alliance: |
Gneem1Lx page
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| Allele Type: |
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Endonuclease-mediated (Humanized sequence, Null/knockout) |
| Mutation: |
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Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Gne Mutation: |
49 strains or lines available
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| 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) |
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Analysis Tools
