FlyBase Allele Report: Dmel\garz[S4-50]

General Information

Symbol

Dmel\garz^S4-50

Species

D. melanogaster

Name

FlyBase ID

FBal0267830

Feature type

allele

Associated gene

Dmel\garz

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Wang et al., 2012)

Progenitor genotype

Cytology

Description

EMS generates a deletion within exon 3 from position 346 to 350 in the nucleotide sequence. This is generated through the deletion of 2 bp and the substitution of three nucleotides found int he third exon. This results in a frameshift and a premature stop codon, leading to a protein of 138 amino acids that lacks all conserved domains.

(Wang et al., 2012)

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 ( 0 )

Disease

Evidence

References

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

abnormal developmental rate | embryonic stage (with Df(2R)Exel6061)

(Wang et al., 2012)

lethal (with garz^EMS667)

(Wang et al., 2012)

lethal (with garz^EP2028)

(Wang et al., 2012)

lethal - all die before end of first instar larval stage (with Df(2R)Exel6061)

(Wang et al., 2012)

some die during first instar larval stage (with Df(2R)Exel6061)

(Wang et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

At late stage embryogenesis, garz^S4-50 mutants show a secretion defect of the collagen prc at the heart tube.

garz^S4-50/Df(2R)Exel6061 transheterozygous animals develop until the end of embryogenesis but fail to hatch and subsequently die. Moreover, mutant individuals exhibit asynchronous development and considerable retardation in comparison with wild-type controls.

(Wang et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

garz^EP2028

(Wang et al., 2012)

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

S4-50

(Wang et al., 2012)

garz^S4-50

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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