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Gene: Gja8^m1Cub (gap junction protein, alpha 8; mutant 1 Cub) Rattus norvegicus

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Symbol:	Gja8^m1Cub
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-Gja8^m1-/-Cub SHR-Gja8^m1+/-Cub
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

cataract 1 multiple types (IAGP)

microphthalmia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal lens development (IAGP)

cataract (IAGP)

decreased circulating HDL cholesterol level (IAGP)

decreased circulating insulin level (IAGP)

decreased circulating LDL cholesterol level (IAGP)

decreased epididymal fat pad weight (IAGP)

decreased fasting circulating glucose level (IAGP)

decreased glutathione level (IAGP)

decreased glutathione peroxidase activity (IAGP)

decreased glutathione reductase level (IAGP)

decreased superoxide dismutase level (IAGP)

hyperchylomicronemia (IAGP)

increased catalase level (IAGP)

increased circulating CCL3 level (IAGP)

increased circulating insulin level (IAGP)

increased circulating interleukin-17 level (IAGP)

increased circulating triglyceride level (IAGP)

increased circulating tumor necrosis factor level (IAGP)

increased epididymal fat pad weight (IAGP)

increased interleukin-12 secretion (IAGP)

increased interleukin-18 secretion (IAGP)

increased interleukin-6 secretion (IAGP)

microphthalmia (IAGP)

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.	Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat.	Šeda O, etal., Lipids Health Dis. 2016 Nov 21;15(1):199. doi: 10.1186/s12944-016-0376-3.

Genomics

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 Gja8^m1Cub

SHR-Gja8^m1+/-Cub SHR-Gja8^m1-/-Cub

Expression

RNA-SEQ Expression

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Sequence

Nucleotide Sequences

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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Mammalian Phenotype