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A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability
Author(s) -
Fuerst Peter G.,
Harris Belinda S.,
Johnson Kenneth R.,
Burgess Robert W.
Publication year - 2010
Publication title -
genesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.093
H-Index - 110
eISSN - 1526-968X
pISSN - 1526-954X
DOI - 10.1002/dvg.20662
Subject(s) - biology , allele , null allele , frameshift mutation , genetics , phenotype , mutant , mutation , exon , gene
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 Dscam 2J , 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 Dscam 2J mutant allele survive into adulthood on the C3H/HeJ background on which the mutation was identified. Using the Dscam 2J 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. © genesis 48:578–584, 2010. © 2010 Wiley‐Liss, Inc.