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Ampd1tm1Tm
Targeted Allele Detail
Summary
Symbol: Ampd1tm1Tm
Name: adenosine monophosphate deaminase 1; targeted mutation 1, Takayuki Morisaki
MGI ID: MGI:6157956
Synonyms: A1(-)
Gene: Ampd1  Location: Chr3:102981330-103007036 bp, + strand  Genetic Position: Chr3, 45.25 cM
Alliance: Ampd1tm1Tm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:260685
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Ampd1 Mutation:  49 strains or lines available
References
Original:  J:260685 Cheng J, et al., Effect of isolated AMP deaminase deficiency on skeletal muscle function. Mol Genet Metab Rep. 2014;1:51-59
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory