Tmem43^tm1.1Xlin
Targeted Allele Detail

Summary

• Symbol: Tmem43^tm1.1Xlin
• Name: transmembrane protein 43; targeted mutation 1.1, Xin Lin
• MGI ID: MGI:8434063
• Synonyms: TMEM43-S358L
• Gene: Tmem43 Location: Chr6:91450689-91465445 bp, + strand Genetic Position: Chr6, 40.54 cM, cytoband D2
• Alliance: Tmem43^tm1.1Xlin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289209
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details:

  Serine codon 358 (TCC) in exon 12 was changed to leucine (TTA) (p.S358L) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 11. The mutation is the equivalent of the same human mutation associated with arrhythmogenic right ventricular dysplasia type 5 (ARVD5) and leads to cardiac fibrosis, increased heart weight and fat content and left ventricular morphological changes in mice. (J:289209)

Expression

In Structures Affected by this Mutation:

3 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 Tmem43 Mutation: 31 strains or lines available

References

• Original: J:289209 Zheng G, et al., TMEM43-S358L mutation enhances NF-kappaB-TGFbeta signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Protein Cell. 2019 Feb;10(2):104-119
• All: 1 reference(s)