Gnetm1.1Masn
Targeted Allele Detail
|
Symbol: |
Gnetm1.1Masn |
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: |
Gnetm1.1Masn page
|
|
Kidney abnormalities in Gnetm1.1Masn/Gnetm1.1Masn mice
Show the 2 phenotype image(s) involving this allele.
|
|
|
Germline Transmission: |
Earliest citation of germline transmission:
J:184315
|
Parent Cell Line: |
E14.1 (ES Cell)
|
Strain of Origin: |
129P2/OlaHsd
|
|
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 Gnetm1.1Masn allele |
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
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
|
|
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) |
|