Pygmtm1.1Adru
Targeted Allele Detail
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| Symbol: |
Pygmtm1.1Adru |
| 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
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| Alliance: |
Pygmtm1.1Adru page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:226312
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
129
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| Allele Type: |
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Targeted |
| Mutations: |
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Insertion, Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Pygm Mutation: |
49 strains or lines available
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| 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) |
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Analysis Tools
