Gnptab^tm1Dkji
Targeted Allele Detail

Summary

• Symbol: Gnptab^tm1Dkji
• Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Dong-Kyu Jin
• MGI ID: MGI:5811451
• Gene: Gnptab Location: Chr10:88215130-88283186 bp, + strand Genetic Position: Chr10, 43.86 cM
• Alliance: Gnptab^tm1Dkji page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:231531
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 12 to exon 20 were replaced with a loxP flanked MC1-neomycin-resistance gene via homologous recombination. (J:231531)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Gnptab Mutation: 78 strains or lines available

References

• Original: J:231531 Ko AR, et al., AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. Mol Genet Metab. 2016 Apr;117(4):447-55
• All: 1 reference(s)