FlyBase Allele Report: Dmel\Col4a1[S3064]

General Information

Symbol

Dmel\Col4a1^S3064

Species

D. melanogaster

Name

FlyBase ID

FBal0298002

Feature type

allele

Associated gene

Dmel\Col4a1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

temperature conditional loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

temperature conditional loss of function allele

(Hollfelder et al., 2014)

Mutagen

ethyl methanesulfonate

(Hollfelder et al., 2014)

Progenitor genotype

Cytology

Description

Amino acid replacement: G552D.

(Hollfelder et al., 2014)

Nucleotide substitution: G?A.

(Hollfelder et al., 2014)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:5,032,640..5,032,640 [+]

Nucleotide change:

G5032640A

Reported nucleotide change:

G?A

Amino acid change:

G552D | Col4a1-PA; G552D | Col4a1-PB; G552D | Col4a1-PC

Reported amino acid change:

G552D

(Hollfelder et al., 2014)

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

lethal | heat sensitive (with Col4a1^DTS-L3)

(Hollfelder et al., 2014)

lethal | heat sensitive (with Col4a1^S0120)

(Hollfelder et al., 2014)

lethal | heat sensitive (with Col4a1^S0791)

(Hollfelder et al., 2014)

lethal | heat sensitive (with Col4a1^S1348)

(Hollfelder et al., 2014)

lethal | heat sensitive (with Col4a1^S2186)

(Hollfelder et al., 2014)

majority die during embryonic stage (with Df(2L)Exel7022)

(Hollfelder et al., 2014)

Phenotype Manifest In

Detailed Description

Statement

Reference

Stage 17 Cg25C^S3064 embryos show a fully penetrant alary muscle detachment phenotype. Alary muscle detachment is also seen in Cg25C^DTS-L3/Cg25C^DTS-L3 embryos.

In Cg25C^S3064/Df(2L)Exel7022 embryos, alary muscles begin to detach at about the same time as body wall muscles begin to contract. Most embryos fail to hatch. Alary muscle detachment in Df(2L)Exel7022 transheterozygous embryos is more penetrant at higher temperatures.

Cg25C^DTS-L3/Cg25C^S3064 or Cg25C^S0120/Cg25C^S3064 is embryonic lethal at 25[o]C, but if kept at 19[o]C some animals develop into early L1 or L2 larvae, respectively.

Adult escapers are observed if combined with Cg25C^S0791 or Cg25C^S1348 or Cg25C^S2186 and grown at 19[o]C, while at 25[o]C these trans-heterozygotes die either during larval growth or in pupal stages.

The close association of pericardial cells with the myocardial tube is weakened in Cg25C^S3064 embryos and, as muscle contraction begins, pericardial cells contacted by alary muscles eventually get pulled away.

Cardiomyocytes in Cg25C^S3064 or Cg25C^S3064/Df(2L)Exel7022 embryos show almost normal cardiomyocyte alignment along the dorsal vessel. Cell polarization is not generally disturbed.

Cg25C^S3064 mutant embryos do not show defects in the ECM layer around the heart tube or other tissues.

(Hollfelder et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Col4a1^S3064, LanB1^S0733 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S1163 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S0464 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S0212 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S3773 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S2941 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S0473 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Col4a1^S3064, LanB1^S1522 has partially lethal - majority die phenotype

(Hollfelder et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Col4a1^S3064 has larval pericardial cell phenotype, suppressible by org-1^OJ487

(Hollfelder et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

If Cg25C^S3064 is crossed with strong LanB1 alleles only 0-30% of the expected non-Cy siblings eclose as adults, and from crosses with weaker LanB1 alleles only 3-40% eclose.

In contrast to Cg25C^S3064 single mutants, pericardial cells are only rarely dislocated to lateral locations in Cg25C^S3064 org-1^OJ487 double mutants (as org-1^OJ487 mutants lack alary muscles).

(Hollfelder et al., 2014)

Xenogenetic Interactions

Statement

Reference

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

Cg25C^S3064

(Hollfelder et al., 2014)

Col4a1^S3064

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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