Allele/Variant

MipCat-Tohm

Species
Mus musculus
Symbol
MipCat-Tohm
Category
allele
Allele of gene
Mip
Transgenic Constructs
None
Synonyms
  • CatTohm
Description
A 12 bp deletion was found to underlie this gain-of-function mutation that arose in the DDI strain. The deletion is in-frame and results in the loss of four amino acids from the second transmembrane domain, affecting cellular localization of the protein. The mutant protein localizes to the intracellular and perinuclear spaces rather than the plasma membrane of lens fiber cells.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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