Matches in SemOpenAlex for { <https://semopenalex.org/work/W3158880063> ?p ?o ?g. }
- W3158880063 endingPage "1565" @default.
- W3158880063 startingPage "1548" @default.
- W3158880063 abstract "Proper embryonic and postnatal skeletal development require coordination of myriad complex molecular mechanisms. Disruption of these processes, through genetic mutation, contributes to variation in skeletal development. We developed a high-throughput N-ethyl-N-nitrosourea (ENU)-induced saturation mutagenesis skeletal screening approach in mice to identify genes required for proper skeletal development. Here, we report initial results from live-animal X-ray and dual-energy X-ray absorptiometry (DXA) imaging of 27,607 G3 mice from 806 pedigrees, testing the effects of 32,198 coding/splicing mutations in 13,020 genes. A total of 39.7% of all autosomal genes were severely damaged or destroyed by mutations tested twice or more in the homozygous state. Results from our study demonstrate the feasibility of in vivo mutagenesis to identify mouse models of skeletal disease. Furthermore, our study demonstrates how ENU mutagenesis provides opportunities to create and characterize putative hypomorphic mutations in developmentally essential genes. Finally, we present a viable mouse model and case report of recessive skeletal disease caused by mutations in FAM20B. Results from this study, including engineered mouse models, are made publicly available via the online Mutagenetix database. © 2021 American Society for Bone and Mineral Research (ASBMR)." @default.
- W3158880063 created "2021-05-10" @default.
- W3158880063 creator A5004605881 @default.
- W3158880063 creator A5009393186 @default.
- W3158880063 creator A5010389553 @default.
- W3158880063 creator A5013772174 @default.
- W3158880063 creator A5015755862 @default.
- W3158880063 creator A5023333681 @default.
- W3158880063 creator A5033521703 @default.
- W3158880063 creator A5034570392 @default.
- W3158880063 creator A5035291764 @default.
- W3158880063 creator A5039964552 @default.
- W3158880063 creator A5042054320 @default.
- W3158880063 creator A5043475220 @default.
- W3158880063 creator A5044891277 @default.
- W3158880063 creator A5047477941 @default.
- W3158880063 creator A5052286253 @default.
- W3158880063 creator A5059140393 @default.
- W3158880063 creator A5063087410 @default.
- W3158880063 creator A5063635497 @default.
- W3158880063 creator A5064842058 @default.
- W3158880063 creator A5070069738 @default.
- W3158880063 creator A5071510119 @default.
- W3158880063 creator A5072424414 @default.
- W3158880063 creator A5083729859 @default.
- W3158880063 date "2021-05-10" @default.
- W3158880063 modified "2023-10-14" @default.
- W3158880063 title "Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice" @default.
- W3158880063 cites W125387947 @default.
- W3158880063 cites W147428555 @default.
- W3158880063 cites W1489232513 @default.
- W3158880063 cites W1521920146 @default.
- W3158880063 cites W1550981108 @default.
- W3158880063 cites W1566641143 @default.
- W3158880063 cites W1791720048 @default.
- W3158880063 cites W1932232911 @default.
- W3158880063 cites W1940252037 @default.
- W3158880063 cites W1968831611 @default.
- W3158880063 cites W1970127647 @default.
- W3158880063 cites W1971308951 @default.
- W3158880063 cites W1972332916 @default.
- W3158880063 cites W1984401784 @default.
- W3158880063 cites W1985910957 @default.
- W3158880063 cites W1989605956 @default.
- W3158880063 cites W1989908968 @default.
- W3158880063 cites W2002073678 @default.
- W3158880063 cites W2016499348 @default.
- W3158880063 cites W2017848013 @default.
- W3158880063 cites W2019196925 @default.
- W3158880063 cites W2025592015 @default.
- W3158880063 cites W2028343348 @default.
- W3158880063 cites W2028945872 @default.
- W3158880063 cites W2029160837 @default.
- W3158880063 cites W2031665650 @default.
- W3158880063 cites W2036997531 @default.
- W3158880063 cites W2051959338 @default.
- W3158880063 cites W2052704661 @default.
- W3158880063 cites W2053850439 @default.
- W3158880063 cites W2053885924 @default.
- W3158880063 cites W2054500578 @default.
- W3158880063 cites W2056301653 @default.
- W3158880063 cites W2062096926 @default.
- W3158880063 cites W2065115529 @default.
- W3158880063 cites W2065766094 @default.
- W3158880063 cites W2068121966 @default.
- W3158880063 cites W2079738970 @default.
- W3158880063 cites W2081285803 @default.
- W3158880063 cites W2082721633 @default.
- W3158880063 cites W2084440639 @default.
- W3158880063 cites W2086360835 @default.
- W3158880063 cites W2086694435 @default.
- W3158880063 cites W2087216143 @default.
- W3158880063 cites W2094292824 @default.
- W3158880063 cites W2094377696 @default.
- W3158880063 cites W2106868006 @default.
- W3158880063 cites W2111113377 @default.
- W3158880063 cites W2113668571 @default.
- W3158880063 cites W2116610925 @default.
- W3158880063 cites W2118390249 @default.
- W3158880063 cites W2119310940 @default.
- W3158880063 cites W2119413986 @default.
- W3158880063 cites W2126598189 @default.
- W3158880063 cites W2140418436 @default.
- W3158880063 cites W2140544512 @default.
- W3158880063 cites W2146205364 @default.
- W3158880063 cites W2149353660 @default.
- W3158880063 cites W2151644451 @default.
- W3158880063 cites W2152799367 @default.
- W3158880063 cites W2154455745 @default.
- W3158880063 cites W2154862494 @default.
- W3158880063 cites W2155124037 @default.
- W3158880063 cites W2159046800 @default.
- W3158880063 cites W2163318706 @default.
- W3158880063 cites W2179803147 @default.
- W3158880063 cites W2263098028 @default.
- W3158880063 cites W2327543792 @default.
- W3158880063 cites W2327919514 @default.
- W3158880063 cites W2473082031 @default.