Gja8^Lop10
Spontaneous Allele Detail

Summary

• Symbol: Gja8^Lop10
• Name: gap junction protein, alpha 8; lens opacity 10
• MGI ID: MGI:1861479
• Synonyms: G22R, Lop10
• Gene: Gja8 Location: Chr3:96820882-96833336 bp, - strand
• Alliance: Gja8^Lop10 page

Mutation origin

• Strain of Origin: BALB/cJ x AKR/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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). (J:75387)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 33 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)