Tmem43^em1Chen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tmem43^em1Chen
• Name: transmembrane protein 43; endonuclease-mediated mutation 1, Ju Chen
• MGI ID: MGI:6358294
• Synonyms: Luma S358L KI
• Gene: Tmem43 Location: Chr6:91450689-91465445 bp, + strand Genetic Position: Chr6, 40.54 cM, cytoband D2
• Alliance: Tmem43^em1Chen page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR/Cas9 with a donor oligonucleotide, a double substitution was introduced (CC>TA) to change serine codon 358 (TCC) to a leucine codon (TTA) (p.Ser358Leu). This mutation mimics the mutation seen in human arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. (J:267849)

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 Tmem43 Mutation: 33 strains or lines available

References

• Original: J:267849 Stroud MJ, et al., Luma is not essential for murine cardiac development and function. Cardiovasc Res. 2018 Mar 1;114(3):378-388
• All: 1 reference(s)