rdf:type |
|
lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0025914,
umls-concept:C0025920,
umls-concept:C0026809,
umls-concept:C0205314,
umls-concept:C0392756,
umls-concept:C0456148,
umls-concept:C0679622,
umls-concept:C0700597,
umls-concept:C1414159,
umls-concept:C1512692,
umls-concept:C1706907,
umls-concept:C1853719
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pubmed:issue |
10
|
pubmed:dateCreated |
2010-10-20
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pubmed:abstractText |
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.
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pubmed:grant |
|
pubmed:commentsCorrections |
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
1526-968X
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pubmed:author |
|
pubmed:copyrightInfo |
© 2010 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:day |
1
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pubmed:volume |
48
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
578-84
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:20715164-Alleles,
pubmed-meshheading:20715164-Animals,
pubmed-meshheading:20715164-Base Pairing,
pubmed-meshheading:20715164-Cell Adhesion Molecules,
pubmed-meshheading:20715164-Exons,
pubmed-meshheading:20715164-Frameshift Mutation,
pubmed-meshheading:20715164-Homozygote,
pubmed-meshheading:20715164-Mice,
pubmed-meshheading:20715164-Mice, Inbred C3H,
pubmed-meshheading:20715164-Mice, Knockout,
pubmed-meshheading:20715164-Mutation,
pubmed-meshheading:20715164-Neurites,
pubmed-meshheading:20715164-Phenotype,
pubmed-meshheading:20715164-Retina
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pubmed:year |
2010
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pubmed:articleTitle |
A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.
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pubmed:affiliation |
The Jackson Laboratory, Bar Harbor, Maine, USA. Fuerst@uidaho.edu
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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