Dp(11Rr325)1Smun
Targeted Allele Detail

Summary

• Symbol: Dp(11Rr325)1Smun
• Name: duplication, Chr 11, Stefan Mundlos 1
• MGI ID: MGI:7398587
• Synonyms: Dup-L
• Gene: Dp(11Rr325)1Smun 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: Targeted (Modified regulatory region, Reporter)
• Mutations: Duplication, Insertion
• Dp(11Rr325)1Smun involves 1 genes/genome features (Rr325) View all
• Mutation details: This duplication allele was created through cre-mediated interchromosomal recombination between loxP sites on two alleles: allele Igs44^{tm1(sb-SBlac)Smun} containing an SBlac cassette at chr11:110989101-110989102 (GRCm39), and allele Igs45^{tm1(sb-SBlac)Smun} containing an SBlac cassette at chr11:112544204-112544205. The duplicated sequence contains boundary region (insulator) Rr325 between the topologically associated domains (TADs) that contain the Kcnj16 and Kcnj2 genes and Sox9, respectively. It duplicates most of the Sox9 TAD and less than half of the Kcnj TAD but leaves the genes intact. The recombination between the loxP sites in the two SBlac cassettes leaves one intact cassette at the duplication junction. This duplication is the reciprocal of the deletion in Del(11Rr325)1Smun. (J:235642)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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(11Rr325)1Smun 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)