FlyBase Allele Report: Dmel\Col4a1[a-30]

General Information

Symbol

Dmel\Col4a1^a-30

Species

D. melanogaster

Name

FlyBase ID

FBal0008319

Feature type

allele

Associated gene

Dmel\Col4a1

Associated Insertion(s)

Carried in Construct

Also Known As

l(2)a30, a-30

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: G233E.

(Kiss et al., 2019)

Nucleotide substitution: G?A.

(Kiss et al., 2019)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:5,031,483..5,031,483 [+]

Nucleotide change:

G5031483A

Reported nucleotide change:

G?A

Amino acid change:

G233E | Col4a1-PA; G233E | Col4a1-PB; G233E | Col4a1-PC

Reported amino acid change:

G233E

(Kiss et al., 2019)

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 collagen disease

CEA

(Kiss et al., 2019)

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 size | adult stage

(Kiss et al., 2019)

lethal | dominant | heat sensitive

(Kiss et al., 2019)

lethal | recessive

(Kelemen-Valkony et al., 2012)

lethal - all die during embryonic stage | recessive

(Kiss et al., 2019)

partially lethal - majority die | dominant | embryonic stage | heat sensitive

(Kelemen-Valkony et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

The common oviduct muscle of Col4a1^a-30 homoygotes loses the typical sarcomeric structure at the restrictive temperature of 29[o]C, but not at the permissive temperature of 20[o]C; there are areas of actin bundling that extend beyond the area of a regular sarcomere; other sarcomeres show actin aggregates; the Z-disc structure is disrupted; muscle fiber diameters decrease and become more heterogeneous.

The common oviduct muscle of Col4a1^a-30/Col4a1^DTS-L4 transheterozygotes also show loss of the sarcomeric structure and actin bundling at the restrictive temperature.

(Kiss et al., 2019)

Cg25C^a-30 heterozygotes show dominant semi-lethality at 29[o]C but are viable at 20[o]C. Homozygotes raised at 20[o]C are lethal.

(Kelemen-Valkony et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^k16721

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^hsneo80

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^sz-78

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^b-35

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^b-14

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^sz-14

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 has lethal | recessive phenotype, suppressible by vkg^sz-6

(Kelemen-Valkony et al., 2012)

Suppressor of

Statement

Reference

Col4a1^a-30 is a suppressor | partially of lethal | recessive phenotype of vkg^hsneo80

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^k16721

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^sz-14

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^sz-78

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^sz-6

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^b-14

(Kelemen-Valkony et al., 2012)

Col4a1^a-30 is a suppressor of lethal | recessive phenotype of vkg^b-35

(Kelemen-Valkony et al., 2012)

Other

Statement

Reference

Col4a1^a-30, dpy^oh13 has lethal phenotype

(Szidonya and Reuter, 1988, Szidonya and Reuter, 1988)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially complements

Col4a1^b-17

(Kelemen-Valkony et al., 2012)

Col4a1^b-9

(Kelemen-Valkony et al., 2012)

vkg^sz-78

(Szidonya and Reuter, 1988)

vkg^sz-78

(Szidonya and Reuter, 1988)

Partially rescued by

Col4a1^a-30 is partially rescued by Col4a1^hs.9.7

(Kelemen-Valkony et al., 2012)

Comments

Expression of Cg25C^hs.9.7 partially rescues the dominant semi-lethality seen in Cg25C^a-30 mutants at 29[o]C.

(Kelemen-Valkony et al., 2012)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Cg25C^a-30

Col4a1^a-30

a-30

(Kiss et al., 2019, Kelemen-Valkony et al., 2012)

col4a1^G233E

(Kiss et al., 2019)

l(2)25Ca³⁵

l(2)a30

(Szidonya and Reuter, 1988, Szidonya and Reuter, 1988)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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