Pygm^tm1.1Adru
Targeted Allele Detail

Summary

• Symbol: Pygm^tm1.1Adru
• Name: muscle glycogen phosphorylase; targeted mutation 1.1, Antoni L Andreu
• MGI ID: MGI:5696972
• Synonyms: Pygm p.R50X knock-in
• Gene: Pygm Location: Chr19:6434438-6448494 bp, + strand Genetic Position: Chr19, 4.53 cM
• Alliance: Pygm^tm1.1Adru page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226312
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: The p.R50X mutation (c.148A4T nucleotide change, GenBank accession number NM_011224.1) was introduced in exon 1. A loxP site flanked neomycin resistance cassette, under the human phospho-glycerate kinase promoter (LoxP-PGK-NEO), was inserted in intron 1. The neo cassette was removed through subsequent cre-mediated recombination. Glycogen phosphorylase activity was totally abolished in the gastrocnemius muscle of homozygous mice. (J:226312)

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 Pygm Mutation: 47 strains or lines available

References

• Original: J:226312 Nogales-Gadea G, et al., Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease. Brain. 2012 Jul;135(Pt 7):2048-57
• All: 9 reference(s)