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Allele : Mip<Cat-Tohm> major intrinsic protein of lens fiber; dominant cataract Tohoku

Primary Identifier  MGI:2657065 Allele Type  Spontaneous
Gene  Mip Inheritance Mode  Dominant
Strain of Origin  DDI Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Cat<Tohm>,
  • Cat<Tohm>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele