These mice have a rearranged chromosome carrying a duplication [Dp(11)17] of the syntenic region on mouse chromosome 11 that spans the genomic interval commonly deleted in Smith-Magenis syndrome patients.
James R. Lupski, Baylor College of Medicine
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted | Dp(11Cops3-Rnf112)1Jrl | duplication, Chr 11, James R Lupski 1 |
Homozygous mutant mice are viable and fertile. Studies employing heterozygous mutant mice (where the duplication exists only on one chromosome) indicate that mutant mice weigh less than their wildtype litter mates. Spleens are noted to be slightly smaller than those from wild type mice. Mutant mice also exhibit impaired contextual fear conditioning. Male heterozygotes have been shown to be hyperactive in open field analysis. This mutant mouse may be useful in studies exploring the consequences of duplications involving the SMS critical interval. (Mice bearing the reciprocal deficiency mutation are also available; see Stock: 005535)
Chromosome-engineering cassettes were inserted into mouse chromosome 11 of 129S5/SvEvBrd-derived AB2.2 embryonic stem (ES) cells, bracketing a span of approximately 3 Mb between the Cops (proximal point) and Zfp179 (distal point) loci. The cassette placed at the distal locus contained most of the Zfp179 gene (excluding exon 16), a tyrosinase minigene, a 5' portion of an hprt minigene, a loxP site and neomycin resitance gene. The cassette placed at the proximal locus contained Cops exons III to VI, a puromycin resistance gene, a loxP site, a 3' portion of an hprt minigene and a Krt1-14-agouti transgene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants buy using HAT media. Correctly targeted ES cells were injected into C57BL/6-Tyrc-Brdblastocysts and the resulting chimeric mice were mated to C57BL/6-Tyrc-Brd mice for nine generations before being mated to C57BL/6J at The Jackson Laboratory.
Allele Name | duplication, Chr 11, James R Lupski 1 |
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Allele Type | Targeted |
Allele Synonym(s) | Dp(11)17; dup(11)(Csn3-Zfp179); dup(Csn3-Zfp179) |
Gene Symbol and Name | Dp(11Cops3-Rnf112)1Jrl, duplication, Chr 11, James R Lupski 1 |
Gene Synonym(s) | |
Strain of Origin | 129S7/SvEvBrd-Hprtb-m2 |
Chromosome | 11 |
Molecular Note | 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. |
Mutations Made By | Katherina Walz, Baylor College of Medicine |
When maintaining a live colony, these mice are bred as heterozygotes.
When using the Dp(11)17 mouse strain in a publication, please cite the originating article(s) and include JAX stock #005536 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Dp(11Cops3-Zfp179)1Jrl |
Frozen Mouse Embryo | B6.129S7-Dp(11Cops3-Rnf112)1Jrl/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Dp(11Cops3-Rnf112)1Jrl/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6.129S7-Dp(11Cops3-Rnf112)1Jrl/J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | B6.129S7-Dp(11Cops3-Rnf112)1Jrl/J Frozen Embryos | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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