Gne^tm1Dar
Targeted Allele Detail

Summary

• Symbol: Gne^tm1Dar
• Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; targeted mutation 1, Daniel Darvish
• MGI ID: MGI:3713799
• Synonyms: Gne^M712T, Gne^M743T, Gne^tm1Mhzg
• Gene: Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
• Alliance: Gne^tm1Dar page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:122172
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• 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)

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gne Mutation: 49 strains or lines available

References

• 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)