A neomycin selection cassette was inserted into exon 6. Gene disruption was confirmed by PCR and Southern blotting. Northern and western blots confirmed that homozygous mutant mice did not show any expression of the enoded RNA or protein. AMPD enzyme activity was almost undetectable in the gastrocnemius and extensor digitorum longus while ~10% of AMPD activity remained in the soleus muscle. Histochemical staining confirmed loss of enzyme activity in all muscle types from homozygous mutant mice. (J:260685)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
2
3

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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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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