Gnetm1Dar
Targeted Allele Detail
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| Symbol: |
Gnetm1Dar |
| Name: |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; targeted mutation 1, Daniel Darvish |
| MGI ID: |
MGI:3713799 |
| Synonyms: |
GneM712T, GneM743T, Gnetm1Mhzg |
| Gene: |
Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
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| Alliance: |
Gnetm1Dar page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:122172
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
C57BL/6J
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutations: |
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Insertion, Single point mutation
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Mutation details: A targeting vector was designed to change methionine codon 743 (ATG) in exon 12 to threonine (ACG) (p.M743T; formerly described as p.M712T). A loxP sites was inserted into intron 11 and an FRT site flanked neomycin resistance gene cassette and a second loxP site downstream of exon 12. The mutation is the equivalent of the same human mutation associated with hereditary inclusion body myopathy (HIBM) (OMIM:600737).
(J:122172)
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View phenotypes and curated references for all genotypes (concatenated display).
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| Original: |
J:122172 Galeano B, et al., Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94 |
| All: |
6 reference(s) |
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Analysis Tools
