Bag5^em1Asay
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bag5^em1Asay
• Name: BCL2-associated athanogene 5; endonuclease-mediated mutation 1, Yoshihiro Asano
• MGI ID: MGI:7327648
• Synonyms: Bag5 Arg197Ter
• Gene: Bag5 Location: Chr12:111675922-111679690 bp, - strand Genetic Position: Chr12, 61.11 cM, cytoband F2
• Alliance: Bag5^em1Asay page

Mutation origin

• Strain of Origin: C57BL/6JJcl

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR/cas9 mediated recombination created a A to T mutation at position 589 creating an arginine to stop mutation at amino acid 197. In addition there is a silent mutation (at position (J:327046)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Bag5 Mutation: 15 strains or lines available

References

• Original: J:327046 Hakui H, et al., Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation. Sci Transl Med. 2022 Jan 19;14(628):eabf3274
• All: 1 reference(s)