Dp(11Kcnj2-Rr325)5Smun
Allele Detail

Summary

• Symbol: Dp(11Kcnj2-Rr325)5Smun
• Name: duplication, Chr 11, Stefan Mundlos 5
• MGI ID: MGI:7398595
• Synonyms: Dup-C2
• Gene: Dp(11Kcnj2-Rr325)5Smun Location: unknown Genetic Position: Chr11, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235642
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Other (Conditional ready, Modified regulatory region, Reporter)
• Mutations: Duplication, Insertion
• Dp(11Kcnj2-Rr325)5Smun involves 2 genes/genome features (Rr325, Kcnj2) View all
• Mutation details: This duplication allele was created through cre-mediated inter-chromosomall recombination between loxP sites on two alleles: one a derivative of allele IIgs44^{tm1(sb-SBlac)Smun} where the SBlac transposon cassette was remobilized using the Tg(Prm1-sb16)AFsp allele and re-inserted at (hopped to) chr11:110867537-110867538 (GRCm39) (between Kcnj16 and Kcnj2), the other allele Igs45^{tm1(sb-SBlac)Smun} containing an SBlac cassette at chr11:112544204-112544205. It duplicates less than half of the Kcnj topologically associated domain (TAD) and the Kcnj2 gene (but not Kcnj16), most of the Sox9 TAD (but not the gene itself), and insulator Rr325 between them. The recombination between the loxP sites in the two SBlac cassettes leaves one intact cassette at the duplication junction (in forward orientation). (J:235642)

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 Dp(11Kcnj2-Rr325)5Smun Mutation: 0 strains or lines available

References

• Original: J:235642 Franke M, et al., Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13;538(7624):265-269
• All: 1 reference(s)