Gnptab^tm1Kkol
Targeted Allele Detail

Summary

• Symbol: Gnptab^tm1Kkol
• Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; targeted mutation 1, Katrin Kollmann
• MGI ID: MGI:4818381
• Synonyms: Gnptab^c.3082insC
• Gene: Gnptab Location: Chr10:88215130-88283186 bp, + strand Genetic Position: Chr10, 43.86 cM
• Alliance: Gnptab^tm1Kkol page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:162133
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: Exon 16 was replaced with one in which a C nucleotide was inserted at position 3082 (c.3082insC). This allele corresponds to one identified in mucolipidosis type II (ML II) patients. The absence of mannose-6-phosphate containing proteins was confirmed by western blot analysis. (J:162133)

Disease models

Expression

In Structures Affected by this Mutation:

7 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:162133 Muller-Loennies S, et al., A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice. Am J Pathol. 2010 Jul;177(1):240-7
• All: 8 reference(s)