Localization of two new X-linked quantitative trait loci controlling corpus callosum size in the mouse

Genes Brain Behav. 2007 Jun;6(4):359-63. doi: 10.1111/j.1601-183X.2006.00264.x. Epub 2006 Aug 7.

Abstract

Corpus callosum (CC) size is a complex trait, characterized by a gradation of values within a normal range, as well as abnormalities that include a small or totally absent CC. Among inbred mouse strains with defects of the CC, BTBR T(+)tf/J (BTBR) mice have the most extreme phenotype; all animals show total absence of the CC and severe reduction of the hippocampal commissure (HC). In contrast, the BALB/cByJ (BALB) strain has a low frequency of small CC and consistently normal HC. Reciprocal F(1) crosses between BTBR and BALB suggest the presence of X-linked quantitative trait loci (QTLs) affecting CC size. Through linkage analysis of backcross male progeny, we have localized two regions on the X chromosome, having peaks at 68.5 Mb (approximately 29.5 cM) and at 134.5 Mb (approximately 60.5 cM) that are largely responsible for the reciprocal differences, with the BTBR allele showing X-linked dominant inheritance associated with CC defects.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agenesis of Corpus Callosum
  • Analysis of Variance
  • Animals
  • Chromosome Mapping
  • Congenital Abnormalities / genetics
  • Corpus Callosum / anatomy & histology*
  • Corpus Callosum / embryology
  • Genes, X-Linked / genetics*
  • Genetic Linkage
  • Hippocampus / abnormalities
  • Hippocampus / anatomy & histology
  • Hippocampus / embryology
  • Male
  • Mice
  • Mice, Inbred BALB C
  • Mice, Neurologic Mutants
  • Organ Size
  • Organogenesis / genetics*
  • Quantitative Trait Loci / genetics*
  • Species Specificity
  • X Chromosome / genetics