Dp(11Cops3-Rnf112)1Jrl
Targeted Allele Detail

Summary

• Symbol: Dp(11Cops3-Rnf112)1Jrl
• Name: duplication, Chr 11, James R Lupski 1
• MGI ID: MGI:3577256
• Synonyms: Dp(11)17, dup(11)(Csn3-Zfp179), dup(Csn3-Zfp179)
• Gene: Dp(11Cops3-Rnf112)1Jrl Location: Chr11:59708621-61344957 bp Genetic Position: Chr11, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:83302
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutation: Duplication
• Dp(11Cops3-Rnf112)1Jrl involves 77 genes/genome features (Gm24945, Gm27511, Gm26837 ...) View all
• Mutation details: The engineered chromosome bears a duplication of a ~3 Mb segment of Chr 11 containing 19 genes including Cops3 (a.k.a. Csn3), which only in the duplicate copy is interrupted (and inactivated) by an insertion; the entire coding region, but not the final, untranslated exon of Rnf112 (formerly Zfp179); and all the intervening DNA. The insertion in Cops3 contains a tyrosinase minigene and a transgene comprising wild-type agouti cDNA under control of the human keratin 14 promoter. (J:83302)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Dp(11Cops3-Rnf112)1Jrl Mutation: 1 strain or line available

References

• Original: J:83302 Walz K, et al., Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May;23(10):3646-55
• All: 8 reference(s)