FlyBase Allele Report: Hsap\COL6A2[UAS.cGa]

General Information

Symbol

Hsap\COL6A2^UAS.cGa

Species

H. sapiens

Name

FlyBase ID

FBal0284164

Feature type

allele

Associated gene

Hsap\COL6A2

Associated Insertion(s)

Carried in Construct

P{UAS-hCOL6A2.G}

Key Links

Transgenic product class

wild_type

(Grossman et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Grossman et al., 2011)

Mutagen

in vitro construct

(Grossman et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-hCOL6A2.G}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\COL6A2 coding sequences.

(Grossman et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\COL6A2

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of congenital heart disease

CEA with Mmus\Dscam^UAS.cGa

(Grossman et al., 2011)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

adult heart, with Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Detailed Description

Statement

Reference

Expression of Hsap\COL6A2^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, results in an increase in stress-induced cardiac dysfunction, such as an alteration in heart rate and recovery rate and a 35% increase in heart failure, compared to controls.

Expression of Hsap\COL6A2^Scer\UAS.cGa in the developing eye under the control of Scer\GAL4^GMR.PF has no effect on eye development.

(Grossman et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\COL6A2^UAS.cGa, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Scer\GAL4^tin.cBa/Hsap\COL6A1^UAS.cGa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Scer\GAL4^tin.cBa/Hsap\SH3BGR^UAS.cGa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa has adult heart phenotype, enhanceable by Mmus\Dscam^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Scer\GAL4^tin.cBa/Mmus\Dscam^UAS.cGa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa has adult heart phenotype, enhanceable by Hsap\COL6A1^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

NOT Enhanced by

Statement

Reference

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa has adult heart phenotype, non-enhanceable by Hsap\SH3BGR^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa has adult heart phenotype, non-enhanceable by Mp^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa has adult heart phenotype, non-enhanceable by Sh3β^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Mp^UAS.cGa/Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Sh3β^UAS.cGa/Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Enhancer of

Statement

Reference

Scer\GAL4^tin.cBa/Hsap\COL6A2^UAS.cGa is an enhancer of eye phenotype of Hsap\COL6A1^UAS.cGa, Scer\GAL4^GMR.PF

(Grossman et al., 2011)

Scer\GAL4^tin.cBa/Hsap\COL6A2^UAS.cGa is an enhancer of eye phenotype of Hsap\SH3BGR^UAS.cGa, Scer\GAL4^GMR.PF

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa is an enhancer of adult heart phenotype of Mmus\Dscam^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Scer\GAL4^tin.cBa/Hsap\COL6A2^UAS.cGa is an enhancer of eye phenotype of Mmus\Dscam^UAS.cGa, Scer\GAL4^GMR.PF

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa is an enhancer of adult heart phenotype of Hsap\COL6A1^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

NOT Enhancer of

Statement

Reference

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa is a non-enhancer of adult heart phenotype of Hsap\SH3BGR^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa is a non-enhancer of adult heart phenotype of Mp^UAS.cGa, Scer\GAL4^tin.cBa

(Grossman et al., 2011)

Hsap\COL6A2^UAS.cGa, Scer\GAL4^tin.cBa is a non-enhancer of adult heart phenotype of Scer\GAL4^tin.cBa, Sh3β^UAS.cGa

(Grossman et al., 2011)

Scer\GAL4^tin.cBa/Hsap\COL6A2^UAS.cGa is a non-enhancer of eye phenotype of Mp^UAS.cGa, Scer\GAL4^GMR.PF

(Grossman et al., 2011)

Scer\GAL4^tin.cBa/Hsap\COL6A2^UAS.cGa is a non-enhancer of eye phenotype of Scer\GAL4^GMR.PF, Sh3β^UAS.cGa

(Grossman et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\COL6A1^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, alters heart rate compared to controls.

Co-expression of Mmus\Dscam^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, alters heart rate (slower and more arhythmic), failure and recovery rate. Heart failure rate increases to 60% in the double mutant compared to flies expressing Mmus\Dscam^Scer\UAS.cGa. In addition, the distribution of the heart period in these flies is substantially broadened.

Co-expression of mp^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, does not affect heart function.

Co-expression of Sh3β^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, does not affect heart function.

Co-expression of Hsap\COL6A2^Scer\UAS.cGa and Hsap\SH3BGR^Scer\UAS.cGa in the fly heart, under the control of Scer\GAL4^tin.cBa, does not affect heart function.

Expression of Hsap\SH3BGR^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the developing eye, under the control of Scer\GAL4^GMR.PF, results in highly disorganised eyes with discolouration.

Co-expression of mp^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the eye under the control of Scer\GAL4^GMR.PF has no effect on eye development.

Co-expression of Sh3β^Scer\UAS.cGa and Hsap\COL6A2^Scer\UAS.cGa in the eye under the control of Scer\GAL4^GMR.PF has no effect on eye development.

Co-expression of Hsap\COL6A2^Scer\UAS.cGa and Mmus\Dscam^Scer\UAS.cGa in the eye under the control of Scer\GAL4^GMR.PF results in severe eye disruption and some eye discolouration.

Co-expression of Hsap\COL6A2^Scer\UAS.cGa and Hsap\COL6A1^Scer\UAS.cGa in the eye under the control of Scer\GAL4^GMR.PF results in moderate eye disruption and some eye discolouration.

(Grossman et al., 2011)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\COL6A2^Scer\UAS.cGa

Hsap\COL6A2^UAS.cGa

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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