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Allele : Gja8<Lop10> gap junction protein, alpha 8; lens opacity 10

Primary Identifier  MGI:1861479 Allele Type  Spontaneous
Gene  Gja8 Inheritance Mode  Semidominant
Strain of Origin  BALB/cJ x AKR/J Is Recombinase  false
Is Wild Type  false
description  In homozygous mutant mice, eyes are microphthalmic, with a dense white cataract present when eyelids opened at the age of 12 days. Histologic changes could be traced back to the 18th day of gestation. Liquefaction of lens contents had begun by 4 days of age, with posterior herniation by 11 days old. Expression in heterozygotes varied with age and with strain of origin (J:4160).
molecularNote  The mutation in the lens opacity 10 mouse was identifed as a G-to-C missense mutation (C-to-G on forward strand) in the gene, which causes a glycine to arginine substitution at codon 22 of the encoded protein (p.G22R).
  • mutations:
  • Single point mutation
  • synonyms:
  • G22R,
  • G22R,
  • Lop10,
  • Lop10
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

7 Publication categories

Trail: Allele