Ampd1^tm1Tm
Targeted Allele Detail

Summary

• Symbol: Ampd1^tm1Tm
• 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: Ampd1^tm1Tm 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 details: 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)

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: 50 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)