GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000407
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Mus musculus
Trait State in Taxon B
Mus musculus
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
house mouse
Synonyms
house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
Rank
species
Lineage
Show more ... i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
house mouse
Synonyms
house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
Rank
species
Lineage
Show more ... i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Gpc3
Synonyms
OCI-5
Sequence Similarities
Belongs to the glypican family.
GO - Biological Process
GO:0009617 : response to bacterium ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
unknown; possible 3'UTR variation
Experimental Evidence
Authors
Oliver F; Christians JK; Liu X; Rhind S; Verma V; Davison C; Brown SD; Denny P; et al. ... show more
Abstract
The genetic basis of variation in complex traits remains poorly understood, and few genes underlying variation have been identified. Previous work identified a quantitative trait locus (QTL) responsible for much of the response to selection on growth in mice, effecting a change in body mass of approximately 20%. By fine-mapping, we have resolved the location of this QTL to a 660-kb region containing only two genes of known function, Gpc3 and Gpc4, and two other putative genes of unknown function. There are no non-synonymous polymorphisms in any of these genes, indicating that the QTL affects gene regulation. Mice carrying the high-growth QTL allele have approximately 15% lower Gpc3 mRNA expression in kidney and liver, whereas expression differences at Gpc4 are non-significant. Expression profiles of the two other genes within the region are inconsistent with a factor responsible for a general effect on growth. Polymorphisms in the 3' untranslated region of Gpc3 are strong candidates for the causal sequence variation. Gpc3 loss-of-function mutations in humans and mice cause overgrowth and developmental abnormalities. However, no deleterious side-effects were detected in our mice, indicating that genes involved in Mendelian diseases also contribute to complex trait variation. Furthermore, these findings show that small changes in gene expression can have substantial phenotypic effects.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
YOUR FEEDBACK is welcome!