Allele/Variant

Ampd1tm1Tm

Species
Mus musculus
Symbol
Ampd1tm1Tm
Category
allele
Allele of gene
Ampd1
Transgenic Constructs
None
Synonyms
  • A1(-)
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
abnormal ammonia homeostasis
MGI
abnormal nucleotide metabolism
MGI
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Disease Associations

No data available