Dsg2^{tm1d(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Dsg2^{tm1d(EUCOMM)Wtsi}
• Name: desmoglein 2; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:6501716
• Synonyms: Dsg2^mut
• Gene: Dsg2 Location: Chr18:20691247-20737583 bp, + strand Genetic Position: Chr18, 11.42 cM
• Alliance: Dsg2^{tm1d(EUCOMM)Wtsi} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235770
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 20711672 of Chromosome 18 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 20712812. The critical exons 4 and 5 are thus flanked by loxP sites. Flp-mediated recombination removed the lacZ and neomycin resistance gene and subsequent cre expression deleted exons 4 and 5. Exon 4 and 5 deletion causes a frameshift mutation and premature termination of translation. (J:235770)

Disease models

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 Dsg2 Mutation: 80 strains or lines available

References

• Original: J:235770 Chelko SP, et al., Central role for GSK3beta in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight. 2016 Apr 21;1(5)
• All: 4 reference(s)