Gja8<sup>m1Cub</sup> (gap junction protein, alpha 8; mutant 1 Cub) - Rat Genome Database

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Gene: Gja8m1Cub (gap junction protein, alpha 8; mutant 1 Cub) Rattus norvegicus
Symbol: Gja8m1Cub
Name: gap junction protein, alpha 8; mutant 1 Cub
RGD ID: 12791992
Description: This mutation is derived from SHR where a missense mutation is observed in the NH2-terminal cytosolic domain of Gja8(Cx50). A T to A transversion at codon 7, leading to a substitution of glutamine for leucin (L7Q) was identified.
ASSOCIATED WITH abnormal lens development; cataract; decreased circulating HDL cholesterol level; ASSOCIATED WITH cataract 1 multiple types; microphthalmia
Type: allele  of Gja8  
Previously known as: Gja8^[m1Cub]; Gja8m1Cub
Is Marker For: Strains:   SHR-Gja8m1-/-Cub   SHR-Gja8m1+/-Cub  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


References - curated
# Reference Title Reference Citation
1. Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. Liska F, etal., Mol Vis. 2008 May 7;14:823-8.
2. Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat. Ĺ eda O, etal., Lipids Health Dis. 2016 Nov 21;15(1):199. doi: 10.1186/s12944-016-0376-3.


Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Gja8m1Cub-var1 chr2 184492360 184492360 A T point_mutation mRatBN7.2
Gja8m1Cub-var1 chr2 199052374 199052374 A T point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Gja8m1Cub



Nucleotide Sequences

Additional Information