title: A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.
abstract: 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.
authors: The Jackson Laboratory, Bar Harbor, Maine, USA. Fuerst@uidaho.edu
authors: Peter G
authors: PG
authors: Fuerst
authors: Belinda S
authors: BS
authors: Harris
authors: Kenneth R
authors: KR
authors: Johnson
authors: Robert W
authors: RW
authors: Burgess
mesh_terms: D000483:Alleles; D000818:Animals; D020029:Base Pairing; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000502:physiology*; D005091:Exons; D016368:Frameshift Mutation; D006720:Homozygote; D051379:Mice; D008809:Mice, Inbred C3H; D018345:Mice, Knockout; D009154:Mutation / Q000235:genetics; D016501:Neurites / Q000502:physiology; D010641:Phenotype; D012160:Retina / Q000166:cytology / Q000378:metabolism
chemical_list: D015815:Cell Adhesion Molecules; C491735:Dscam protein, mouse