Allele/Variant

Oca2p-3Btlr

Species
Mus musculus
Symbol
Oca2p-3Btlr
Category
allele
Allele of gene
Oca2
Transgenic Constructs
None
Synonyms
  • Oca2m3Btlr
  • quicksilver
Description
The quicksilver mutation corresponds to a G-to-A transition at nucleotide position 1487, in the 14th of 24 total exons, resulting in replacement of glutamic acid by lysine at amino acid position 453 of the protein (E453K), in a highly conserved lumenal segment between the 5th and 6th transmembrane domains.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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