GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002386
Main curator
Santos
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
yellow agouti (A) phenotype
Trait State in Taxon B
black non-agouti phenotype
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Japanese wild mouse
Synonyms
Mus molossinus; Japanese wild mouse; Mus musculus molosinus
Rank
subspecies
Lineage
Show more ... i; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus; Mus musculus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Japanese wild mouse
Synonyms
Mus molossinus; Japanese wild mouse; Mus musculus molosinus
Rank
subspecies
Lineage
Show more ... i; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus; Mus musculus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
1-10 kb
Molecular Details of the Mutation
-
Experimental Evidence
Authors
Tanave A; Imai Y; Koide T
Abstract
Black coat color (nonagouti) is a widespread classical mutation in laboratory mouse strains. The intronic insertion of endogenous retrovirus VL30 in the nonagouti (a) allele of agouti gene was previously reported as the cause of the nonagouti phenotype. Here, we report agouti mouse strains from East Asia that carry the VL30 insertion, indicating that VL30 alone does not cause the nonagouti phenotype. We find that a rare type of endogenous retrovirus, β4, was integrated into the VL30 region at the a allele through nested retrotransposition, causing abnormal splicing. Targeted complete deletion of the β4 element restores agouti gene expression and agouti coat color, whereas deletion of β4 except for a single long terminal repeat results in black-and-tan coat color. Phylogenetic analyses show that the a allele and the β4 retrovirus originated from an East Asian mouse lineage most likely related to Japanese fancy mice. These findings reveal the causal mechanism and historic origin of the classical nonagouti mutation.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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