title: Mutation discovery in mice by whole exome sequencing.
abstract: We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and autoimmune hepatitis.
authors.affiliation: The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.
authors.forename: Heather
authors.initials: H
authors.lastname: Fairfield
authors.forename: Griffith J
authors.initials: GJ
authors.lastname: Gilbert
authors.forename: Mary
authors.initials: M
authors.lastname: Barter
authors.forename: Rebecca R
authors.initials: RR
authors.lastname: Corrigan
authors.forename: Michelle
authors.initials: M
authors.lastname: Curtain
authors.forename: Yueming
authors.initials: Y
authors.lastname: Ding
authors.forename: Mark
authors.initials: M
authors.lastname: D'Ascenzo
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Gerhardt
authors.forename: Chao
authors.initials: C
authors.lastname: He
authors.forename: Wenhui
authors.initials: W
authors.lastname: Huang
authors.forename: Todd
authors.initials: T
authors.lastname: Richmond
authors.forename: Lucy
authors.initials: L
authors.lastname: Rowe
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Probst
authors.forename: David E
authors.initials: DE
authors.lastname: Bergstrom
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Murray
authors.forename: Carol
authors.initials: C
authors.lastname: Bult
authors.forename: Joel
authors.initials: J
authors.lastname: Richardson
authors.forename: Benjamin T
authors.initials: BT
authors.lastname: Kile
authors.forename: Ivo
authors.initials: I
authors.lastname: Gut
authors.forename: Jorg
authors.initials: J
authors.lastname: Hager
authors.forename: Snaevar
authors.initials: S
authors.lastname: Sigurdsson
authors.forename: Evan
authors.initials: E
authors.lastname: Mauceli
authors.forename: Federica
authors.initials: F
authors.lastname: Di Palma
authors.forename: Kerstin
authors.initials: K
authors.lastname: Lindblad-Toh
authors.forename: Michael L
authors.initials: ML
authors.lastname: Cunningham
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Cox
authors.forename: Monica J
authors.initials: MJ
authors.lastname: Justice
authors.forename: Mona S
authors.initials: MS
authors.lastname: Spector
authors.forename: Scott W
authors.initials: SW
authors.lastname: Lowe
authors.forename: Thomas
authors.initials: T
authors.lastname: Albert
authors.forename: Leah Rae
authors.initials: LR
authors.lastname: Donahue
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Jeddeloh
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
authors.forename: Laura G
authors.initials: LG
authors.lastname: Reinholdt
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian / Q000235:genetics; D024043:Collagen Type II / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D059472:Exome; D005091:Exons; D005787:Gene Frequency; D023281:Genomics / Q000379:methods*; D005838:Genotype; D054643:INDEL Mutation; D007202:Indicators and Reagents / Q000592:standards; D020930:MAP Kinase Kinase Kinases / Q000235:genetics; D051379:Mice; D008815:Mice, Inbred Strains; D009154:Mutation; D010641:Phenotype; D000097767:Mitogen-Activated Protein Kinase Kinase Kinase 11
chemical_list: D024043:Collagen Type II; D007202:Indicators and Reagents; D020930:MAP Kinase Kinase Kinases; D000097767:Mitogen-Activated Protein Kinase Kinase Kinase 11; C447413:Col2a1 protein, mouse