FlyBase Allele Report: Hsap\CRYAB[R120G.UAS]

General Information

Symbol

Hsap\CRYAB^R120G.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0343878

Feature type

allele

Associated gene

Hsap\CRYAB

Associated Insertion(s)

Carried in Construct

P{UASp-hCRYAB.R120G}

Key Links

Transgenic product class

missense_variant

(Xie et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Xie et al., 2013)

Mutagen

in vitro construct

(Xie et al., 2013)

Progenitor genotype

Carried in construct

P{UASp-hCRYAB.R120G}

Cytology

Description

UASp regulates expression of the Hsap\CRYAB cDNA bearing a R120G mutation, an autosomal dominant mutation that manifests adult-onset cataracts, skeletal muscle weakness and heart failure (cardiomyopathy).

(Xie et al., 2013)

Allele components

Component

Use(s)

Regulatory region(s)

UASp

binary expression system - regulatory region

Encoded product / tool

Hsap\CRYAB

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 adult-onset myofibrillar myopathy 2A

CEC

(Xie et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of adult-onset myofibrillar myopathy 2A

is ameliorated by G6pd^KK108898

(Xie et al., 2013)

is ameliorated by Men^KK107809

(Xie et al., 2013)

is ameliorated by Pgd^KK107356

(Xie et al., 2013)

is ameliorated by Pgdⁿ³⁹

(Xie et al., 2013)

is ameliorated by G6pd^GD1203

(Xie et al., 2013)

is exacerbated by G6pd^UAS.cLa

(Xie et al., 2013)

is ameliorated by G6pd^lo2a

(Xie et al., 2013)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

FlyBase curator comment: 'myopathy' disease subtype 'myofibrillar myopathy 2' is associated with the R120G mutation of the gene CRYAB.

(Xie et al., 2013)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

decreased size | adult stage, with Scer\GAL4^ey.PH

(Xie et al., 2013)

decreased size | adult stage, with Scer\GAL4^GMR.PF

(Xie et al., 2013)

increased mortality during development, with Scer\GAL4^Act5C.PI

(Xie et al., 2013)

increased mortality during development, with Scer\GAL4^αTub84B.PL

(Xie et al., 2013)

viable, with Scer\GAL4^HCH.Hand

(Xie et al., 2013)

visible | adult stage, with Scer\GAL4^ey.PH

(Xie et al., 2013)

visible | adult stage, with Scer\GAL4^GMR.PF

(Xie et al., 2013)

Phenotype Manifest In

adult heart, with Scer\GAL4^HCH.Hand

(Xie et al., 2013)

eye, with Scer\GAL4^ey.PH

(Xie et al., 2013)

eye, with Scer\GAL4^GMR.PF

(Xie et al., 2013)

Detailed Description

Statement

Reference

Expressing Hsap\CRYAB^R120G.UAS under the control of Scer\GAL4^HCH.Hand leads to cardiac defects, as it induces significant increases in arrhythmicity index, and diastolic and systolic diameters, and a significant decrease in fractional shortening, as compared to controls.

Expressing Hsap\CRYAB^R120G.UAS under the control of either Scer\GAL4^ey.PH or Scer\GAL4^GMR.PF results in variably rough and small eyes; these defects are more consistent and severe in the Scer\GAL4^GMR.PF background. Heat-shock in the Scer\GAL4^GMR.PF background leads to an enhanced eye phenotype, or even to lethality.

(Xie et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\CRYAB^R120G.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by G6pd^UAS.cLa, Scer\GAL4^GMR.PF

(Xie et al., 2013)

Suppressed by