Gne^tm1Smro
Targeted Allele Detail

Summary

• Symbol: Gne^tm1Smro
• Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; targeted mutation 1, Stella Mitrani-Rosenbaum
• MGI ID: MGI:6446963
• Synonyms: Gne^M743T
• Gene: Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
• Alliance: Gne^tm1Smro page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:291580
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Methionine codon 743 (ATG) in exon 12 was changed to threonine (ACG) (p.M743T) and a loxP site flanked neomycin resistance gene cassette was inserted downstream of 12. The mutation is the equivalent of the same human mutation associated with hereditary inclusion body myopathy (HIBM) (OMIM:600737). (J:291580)

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: 47 strains or lines available

References

• Original: J:291580 Sela I, et al., Variable phenotypes of knockin mice carrying the M712T Gne mutation. Neuromolecular Med. 2013 Mar;15(1):180-91
• All: 2 reference(s)