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Dp(11Cops3-Rnf112)1Jrl
Targeted Allele Detail
Nomenclature
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: Chr11:59817795-61454131 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-Hprtb-m2
Mutation
description
Allele Type:    Targeted
Mutation:    Duplication
  Dp(11Cops3-Rnf112)1Jrl involves 78 genes/genome features (Gm20095, Gm16062, Cops3 ...) View all
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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)

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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory