Gne^tm1.1Masn
Targeted Allele Detail

Summary

• Symbol: Gne^tm1.1Masn
• Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; targeted mutation 1.1, Masahide Asano
• MGI ID: MGI:5320944
• Synonyms: GNE V572L
• Gene: Gne Location: Chr4:44034075-44084177 bp, - strand Genetic Position: Chr4, 23.1 cM, cytoband B1
• Alliance: Gne^tm1.1Masn page

Kidney abnormalities in Gne^tm1.1Masn/Gne^tm1.1Masn mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:184315
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: Exon 10 was replaced with a modified exon 10 in which a nucleotide substitution (G-to-C) results in the amino acid substitution of valine with lysine at position 572 (p.V572L). Cre-mediated recombination removed the floxed neo cassette downstream of the modified exon 10. (J:184315)

Generation of the Gne^tm1.1Masn allele

Expression

In Structures Affected by this Mutation:

4 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:184315 Ito M, et al., Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. PLoS One. 2012;7(1):e29873
• All: 2 reference(s)