Popdc2^tm2.1Tbd
Targeted Allele Detail

Summary

• Symbol: Popdc2^tm2.1Tbd
• Name: popeye domain containing 2; targeted mutation 2.1, Thomas Brand
• MGI ID: MGI:7627084
• Synonyms: POPDC2^tm2Tbd, POPDC2^W188*
• Gene: Popdc2 Location: Chr16:38182571-38198578 bp, + strand Genetic Position: Chr16, 26.79 cM
• Alliance: Popdc2^tm2.1Tbd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:296962
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Tryptophan codon 188 (TGG) in exon 2 was changed to a stop codon (TAG) (p.W188*) and a an FRT site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation is the equivalent of the same c.563G>A:p.W188* human mutation associated with familial atrioventricular block (AVB). (J:296962)

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 Popdc2 Mutation: 11 strains or lines available

References

• Original: J:296962 Rinne S, et al., POPDC2 a novel susceptibility gene for conduction disorders. J Mol Cell Cardiol. 2020 Jun 11;145:74-83
• All: 2 reference(s)