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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
