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Strain: SHR-Gja8m1-/-Cub

Symbol: SHR-Gja8m1-/-Cub
Strain: SHR-Gja8m1-/-
Substrain: Cub
RGD ID: 2293729
Citation ID: RRID:RGD_2293729
Ontology ID: RS:0001413
Alleles: Gja8m1Cub
Also Known As: SHR-Dca;SHR-Dca;SHR-Gja8m1Ipcv;SHR-dominant cataract; SHR-Dca-/-; SHR-Gja8m1Cub; SHR-Gja8m1Cub; SHR-Gja8^[m1-/-Cub]
Type: mutant
Available Source: Not Available
Origination: Department of Biology, Charles University in Prague, Prague, Czech Republic
Description: This strain is a coisogenic mutant derived from SHR/OlaIpcv where a mutation is observed in the NH2-terminal cytosolic domain of Cx50, L7Q
Genetic Status: Homozygous
Last Known Status: Unknown
Position
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.22184,492,360 - 184,492,360RGD_MAPPER_PIPELINEmRatBN7.2
Rnor_6.02199,052,374 - 199,052,374RGD_MAPPER_PIPELINERnor6.0
Rnor_5.02218,536,831 - 218,538,447RGD_MAPPER_PIPELINERnor5.0





Disease Annotations     Click to see Annotation Detail View


References

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. RGD Strain RSO annotation pipeline RGD Automated Pipelines
3. 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.

Region

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

Additional Information

RGD Curation Notes
Note Type Note Reference
strain_life_disease inherits cataract in autosomal-semi-dominant form 2293186
strain_other This region spans 8.6 Mbp on chr 2 from D2Rat134 to D2Rat186; incorporates glutamine to leucin substitution in exon 7 2293186

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-11-05 SHR-Gja8m1-/-Cub    SHR-Gja8m1Cub    Symbol and/or name change 68913 APPROVED
2010-06-08 SHR-Gja8m1Cub    SHR-Gja8m1/Cub    Name updated 68913 APPROVED
2010-06-08 SHR-Gja8m1Cub    SHR-Gja8m1/Cub    Name updated 68913 APPROVED
2010-06-08 SHR-Gja8m1Cub    SHR-Gja8m1/Cub    Symbol updated 68687 APPROVED
2010-06-08 SHR-Gja8m1Cub    SHR-Gja8m1/Cub    Symbol updated 68687 APPROVED