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Items: 1 to 20 of 87

1.

Lampe1: an ENU-germline mutation causing spontaneous hepatosteatosis identified through targeted exon-enrichment and next-generation sequencing.

Sheridan R, Lampe K, Shanmukhappa SK, Putnam P, Keddache M, Divanovic S, Bezerra J, Hoebe K.

PLoS One. 2011;6(7):e21979. doi: 10.1371/journal.pone.0021979. Epub 2011 Jul 7.

2.

Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.

Arnold CN, Xia Y, Lin P, Ross C, Schwander M, Smart NG, Müller U, Beutler B.

Genetics. 2011 Mar;187(3):633-41. doi: 10.1534/genetics.110.124586. Epub 2010 Dec 31.

3.

Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.

Puk O, Yan X, Sabrautzki S, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Graw J.

Mol Vis. 2013 Apr 12;19:877-84. Print 2013.

4.

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, Shao Y, Cho V, Kirk M, Singh M, Xia Y, Hager J, Winslade S, Sjollema G, Beutler B, Enders A, Goodnow CC.

Open Biol. 2012 May;2(5):120061. doi: 10.1098/rsob.120061.

5.

Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice.

Michaud EJ, Culiat CT, Klebig ML, Barker PE, Cain KT, Carpenter DJ, Easter LL, Foster CM, Gardner AW, Guo ZY, Houser KJ, Hughes LA, Kerley MK, Liu Z, Olszewski RE, Pinn I, Shaw GD, Shinpock SG, Wymore AM, Rinchik EM, Johnson DK.

BMC Genomics. 2005 Nov 21;6:164.

6.

An ENU-induced mutation of Nrg1 causes dilated pupils and a reduction in muscarinic receptors in the sphincter pupillae.

Chen B, Li K, Zhang F, Zhai G, Gong W, Qiang S, Xue Z.

PLoS One. 2011;6(9):e25176. doi: 10.1371/journal.pone.0025176. Epub 2011 Sep 19.

7.

An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.

Jablonski MM, Dalke C, Wang X, Lu L, Manly KF, Pretsch W, Favor J, Pardue MT, Rinchik EM, Williams RW, Goldowitz D, Graw J.

Mol Vis. 2005 Jul 27;11:569-81.

8.

Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.

Sabbagha NG, Kao HJ, Yang CF, Huang CC, Lin WD, Tsai FJ, Chen TH, Tarn WY, Wu JY, Chen YT.

Pediatr Res. 2011 Jul;70(1):31-6. doi: 10.1203/PDR.0b013e31821b89ee.

PMID:
21659959
9.

Ethylnitrosourea-induced mutation and molecular analysis of transgenic mice containing the gpt shuttle vector.

Yamada T, Yamamoto R, Kaneko H, Yoshitake A.

Mutat Res. 1999 Apr 26;441(1):59-72.

PMID:
10224323
10.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

11.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
12.
13.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Tran VK, Takeshima Y, Zhang Z, Yagi M, Nishiyama A, Habara Y, Matsuo M.

J Med Genet. 2006 Dec;43(12):924-30. Epub 2006 May 31.

14.

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, Funato Y, Miki H, Marin-Garcia P, Matthews L, Coffey AJ, Parker A, Hubbard TJ, Rogers J, Bradley A, Adams DJ, Justice MJ.

PLoS Genet. 2009 Dec;5(12):e1000759. doi: 10.1371/journal.pgen.1000759. Epub 2009 Dec 11.

15.

Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene.

Hohenstein P, Molenaar L, Elsinga J, Morreau H, van der Klift H, Struijk A, Jagmohan-Changur S, Smits R, van Kranen H, van Ommen GJ, Cornelisse C, Devilee P, Fodde R.

Genes Chromosomes Cancer. 2003 Mar;36(3):273-82.

PMID:
12557227
16.

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK.

Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5.

17.

Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis.

Pan L, Shah AN, Phelps IG, Doherty D, Johnson EA, Moens CB.

BMC Genomics. 2015 Feb 14;16:83. doi: 10.1186/s12864-015-1263-4.

19.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.

BMC Cancer. 2006 Sep 29;6:230.

20.

Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.

Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR.

Mamm Genome. 2007 Sep;18(9):646-56. Epub 2007 Sep 18.

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