Pomgnt1^tm1Stk
Targeted Allele Detail

Summary

• Symbol: Pomgnt1^tm1Stk
• Name: protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase; targeted mutation 1, Shin'ichi Takeda
• MGI ID: MGI:3832592
• Synonyms: POMGnT1-deficient
• Gene: Pomgnt1 Location: Chr4:116007700-116017041 bp, + strand Genetic Position: Chr4, 53.1 cM, cytoband C7
• Alliance: Pomgnt1^tm1Stk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144928
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 18 was replaced with a neo cassette. The absence of protein activity was confirmed by enzymatic assay and the lack of the glycosylated alpha-dystroglycan super moiety in western blot analysis. (J:144928)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Pomgnt1 Mutation: 63 strains or lines available

References

• Original: J:144928 Miyagoe-Suzuki Y, et al., Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. Mech Dev. 2009 Mar-Apr;126(3-4):107-16
• All: 5 reference(s)