Genetic and genomic analyses of musculoskeletal differences between BEH and BEL strains

Arimantas Lionikas*, Audrius Kilikevicius, Lutz Bünger, Caroline Meharg, Andrew M. Carroll, Aivaras Ratkevicius, Tomas Venckunas, David A. Blizard

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Berlin high (BEH) and Berlin low (BEL) strains selected for divergent growth differ threefold in body weight. We aimed at examining muscle mass, which is a major contributor to body weight, by exploring morphological characteristics of the soleus muscle (fiber number and cross sectional area; CSA), by analyzing the transcriptome of the gastrocnemius and by initiating quantitative trait locus (QTL) mapping. BEH muscles were four to eight times larger than those of BEL. In substrain BEH+/+, mutant myostatin was replaced with a wild-type allele; however, BEH+/+muscles still were two to four times larger compared with BEL. BEH soleus muscle fibers were two times more numerous (P <0.0001) and CSA was two times larger (P <0.0001) compared with BEL. In addition, soleus femoral attachment anomaly (SFAA) was observed in all BEL mice. One significant (Chr 1) and four suggestive (Chr 3, 4, 6, and 9) muscle weight QTLs were mapped in a 21-day-old F2 intercross (n = 296) between BEH and BEL strains. The frequency of SFAA incidence in the F2 and in the backcross to BEL strain (BCL) suggested the presence of more than one causative gene. Two suggestive SFAA QTLs were mapped in BCL; however, their peak markers were not associated with the phenotype in F2. RNA-Seq analysis revealed 2,148 differentially expressed (P <0.1) genes and 45,673 single nucleotide polymorphisms and >2,000 indels between BEH+/+ and BEL males. In conclusion, contrasting muscle traits and genomic and gene expression differences between BEH and BEL strains provide a promising model for the search for genes involved in muscle growth and musculoskeletal morphogenesis.

Original languageEnglish
Pages (from-to)940-947
Number of pages8
JournalPhysiological Genomics
Issue number20
Early online date15 Oct 2013
Publication statusPublished - 15 Oct 2013

Bibliographical note

Research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under Award Number AR-056280 (D. A. Blizard). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. This work was also supported by Marie Curie International Reintegration Grant 249156 (A. Lionikas) and the grants VP1-3.1-ŠMM-01-V-02-003 (A. Kilikevicius) and MIP-067/2012 (T. Venckunas) from the Research Council of Lithuania.


  • QTL mapping
  • Skeletal muscle
  • Transcriptome


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