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Gja8Lop10
Spontaneous Allele Detail
Nomenclature
Symbol: Gja8Lop10
Name: gap junction protein, alpha 8; lens opacity 10
MGI ID: MGI:1861479
Synonyms: G22R, Lop10
Gene: Gja8  Location: Chr3:96913566-96926020 bp, - strand  
Mutation
origin
Strain of Origin:  BALB/cJ x AKR/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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). (J:75387)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gja8 Mutation:  25 strains or lines available
Notes
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).
References
Original:  J:4160 Runge PE, et al., Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes. Invest Ophthalmol Vis Sci. 1992 Oct;33(11):3202-8
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory