FlyBase Allele Report: Dmel\E(bx)[Nurf301-3]

General Information

Symbol

Dmel\E(bx)^Nurf301-3

Species

D. melanogaster

Name

FlyBase ID

FBal0145004

Feature type

allele

Associated gene

Dmel\E(bx)

Associated Insertion(s)

Carried in Construct

Also Known As

Nurf301³

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Badenhorst et al., 2005)

Progenitor genotype

Cytology

Description

Amino acid replacement: W752term.

(Badenhorst et al., 2005)

Amino acid replacement: Q750term.

(Badenhorst et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:243,510..243,510 [-]

Nucleotide change:

G243510A

Amino acid change:

Reported amino acid change:

W752term

Comment:

G to A nucleotide change at the second or third position of the wild type Trp codon leads to a nonsense mutation (exact site of mutation unspecified). The mutation was annotated at the second base of the codon.

(Badenhorst et al., 2005, Badenhorst et al., 2002)

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 - all die before end of larval stage | recessive

(Badenhorst et al., 2005)

some die during larval stage | recessive

(Badenhorst et al., 2005)

Phenotype Manifest In

melanotic mass (with E(bx)^Nurf301-2)

(Badenhorst et al., 2002)

melanotic mass (with E(bx)^ry122)

(Badenhorst et al., 2002)

polytene chromosome (with Df(3L)3643)

(Bai et al., 2007)

polytene chromosome (with E(bx)^Nurf301-2)

(Badenhorst et al., 2002)

Detailed Description

Statement

Reference

The morphology of the male X polytene chromosome is severely disrupted in E(bx)^Nurf301-3/Df(3L)3643 mutants; the chromosome appears very wide at the expense of length compared to wild type.

(Bai et al., 2007)

Mutants fail to pupariate.

(Badenhorst et al., 2005)

E(bx)^Nurf301-2/E(bx)^Nurf301-3, and E(bx)^ry122/E(bx)^Nurf301-3 mutant larvae exhibit melanotic tumours. The male X chromosome in homozygous mutants is highly aberrant. This is also seen in E(bx)^Nurf301-2/E(bx)^Nurf301-3 mutants.

(Badenhorst et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressed by

Statement

Reference

E(bx)^Nurf301-3/Df(3L)3643 has polytene chromosome phenotype, suppressible | partially by Df(1)52/P{w⁺4Δ4.3}

(Bai et al., 2007)

E(bx)^Nurf301-3/Df(3L)3643 has polytene chromosome phenotype, suppressible | partially by lncRNA:roX1^ex6

(Bai et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

The puffing of the male X polytene chromosome that is seen in E(bx)^Nurf301-3 mutants is regionally inhibited if they are also mutant for roX2 (carrying Df(1)52 P{w⁺4Δ4.3}); in this case, puffing of a large portion of the proximal X, including the region around the roX2 locus, is strongly reduced, while the rest of the chromosome still displays a very puffed morphology with a dramatic loss of the normal banding pattern.

The puffing of the male X polytene chromosome that is seen in E(bx)^Nurf301-3 mutants is regionally inhibited if they are also mutant for roX1 (carrying roX1^ex6); in this case, puffing of a large portion of the distal X, including the region around the roX1 locus, is strongly reduced, while the rest of the chromosome still displays a puffed morphology.

Chromosomal decondensation surrounding autosomal insertions of P{GMroX2} is seen in polytene chromosomes if E(bx)^Nurf301-3 is introduced into a roX1^- roX2^- background (roX1^ex6 Df(1)52 P{w⁺4Δ4.3}) carrying P{GMroX2} insertions.