A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability

Genesis. 2010 Oct 1;48(10):578-84. doi: 10.1002/dvg.20662.


DSCAMs are cell adhesion molecules that play several important roles in neurodevelopment. Mouse alleles of Dscam identified to date do not survive on an inbred C57BL/6 background, complicating analysis of DSCAM-dependent developmental processes because of phenotypic variability related to the segregating backgrounds needed for postnatal survival. A novel spontaneous allele of Dscam, hereafter referred to as Dscam²(J), has been identified. This allele contains a four base pair duplication in exon 19, leading to a frameshift and truncation of the open reading frame. Mice homozygous for the Dscam²(J) mutant allele survive into adulthood on the C3H/HeJ background on which the mutation was identified. Using the Dscam²(J) allele, retinal phenotypes that have variable severity on a segregating background were examined. A neurite lamination defect similar to that described in chick was discovered in mice. These results indicate that, in the retina, additional DSCAM-dependent processes can be found by analysis of mutations on different genetic backgrounds.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles*
  • Animals
  • Base Pairing
  • Cell Adhesion Molecules / genetics*
  • Cell Adhesion Molecules / physiology*
  • Exons
  • Frameshift Mutation
  • Homozygote
  • Mice
  • Mice, Inbred C3H*
  • Mice, Knockout
  • Mutation / genetics
  • Neurites / physiology
  • Phenotype*
  • Retina / cytology
  • Retina / metabolism


  • Cell Adhesion Molecules
  • Dscam protein, mouse