Gja8<Lop10> Spontaneous Allele Detail MGI Mouse (MGI:1861479)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23