Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:83302
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted Mutation:    Duplication   Dp(11Cops3-Rnf112)1Jrl involves 77 genes/genome features (Gm27511, Gm26837, Gm24945 ...) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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

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)