FlyBase Allele Report: Dmel\N[264-47]

General Information

Symbol

Dmel\N^264-47

Species

D. melanogaster

Name

FlyBase ID

FBal0012750

Feature type

allele

Associated gene

Dmel\N

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

hypomorphic allele - genetic evidence

loss of function allele

amorphic allele - genetic evidence

Mutagen

X ray

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Lieber et al., 1993)

hypomorphic allele - genetic evidence

(Brennan et al., 1997)

loss of function allele

(Lehmann et al., 1983)

Mutagen

X ray

Progenitor genotype

Cytology

Polytene chromosomes apparently normal (Sutton).

Description

4bp deletion at nucleotide 11362 in EGF repeat 19, resulting in a TGA stop codon at codon 763.

(Brennan et al., 1997)

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

Phenotype Manifest In

Detailed Description

Statement

Reference

Mutant embryos show hypertrophy of the central and peripheral nervous systems.

(Kidd and Lieber, 2002)

Wing veins L3 and L5 thickened, thoracic microchaetae crowded and irregularly distributed.

N^264-47 mutants exhibit elevated levels of asymmetry and reduced mean character size relative to Canton-S flies for thoracic bristles.

(Indrasamy et al., 2000)

Hemizygous lethal. Heterozygotes have a neurogenic phenotype and have an increase in the number of thoracic bristles compared to wild-type.

(Brennan et al., 1997)

Mutant embryos rarely form commissural or longitudinal connections. Although the first axons grow out at the same time as wild-type axons, they are never oriented towards the midline, and even fail to form connections on the ipsilateral side. Both anterior and middle pairs of midline glia are absent, and the posterior pair are duplicated but found at ectopic positions. There are 4-8 additional neuronal midline cells per segment.

(Menne and Klambt, 1994)

Strong neurogenic phenotype.

(Lieber et al., 1993)

N^264-47 shows severe neural hypertrophy, a 6--9 fold increase in nau expressing cells per cluster relative to wild type. Mhc protein is also highly expressed and the Mhc expressing cells are arranged in irregular clusters.

(Corbin et al., 1991)

Extreme embryonic neurogenic phenotype.

(Lehmann et al., 1983)

Lethality is not covered by Dp(1;3)N^264-58.

(Demerec, 1940)

Typical Notch. Male embryos show developmental abnormalities like those of Df(1)N-8 (Poulson, 1939). Lethal with N^nd-3. N^264-47/spl heterozygotes produce nonrecombinant N⁺ chromosomes with relatively high frequency (Welshons, 1958).

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

N^264-47 has visible | dominant phenotype, enhanceable by Df(3R)Delta-FX3

(Brennan et al., 1997)

Suppressed by

Statement

Reference

N^264-47 has visible | dominant phenotype, suppressible by wg^S107

(Brennan et al., 1997)

Enhancer of

Statement

Reference

N^264-47/N[+] is an enhancer of visible | dominant phenotype of L^si

(Chern and Choi, 2002)

Phenotype Manifest In

Enhanced by

Statement

Reference

N^264-47 has adult thoracic sensillum phenotype, enhanceable by Df(3R)Delta-FX3

(Brennan et al., 1997)

Suppressed by

Statement

Reference

N^264-47 has presumptive embryonic/larval peripheral nervous system phenotype, suppressible by N::Mmus\Notch1^Nmf.lexA.UAS/Scer\GAL4^da.G32

(Kidd and Lieber, 2002)

N^264-47 has adult thoracic sensillum phenotype, suppressible by wg^S107

(Brennan et al., 1997)

Enhancer of

Statement

Reference

N^264-47/N[+] is an enhancer of eye phenotype of L^si

(Chern and Choi, 2002)

Additional Comments

Genetic Interactions

Statement

Reference

The severity of the eye phenotype of L^si/+ flies is enhanced if they are also heterozygous for N^264-47.

(Chern and Choi, 2002)

The number of thoracic bristles in N^264-47 heterozygotes is increased further if the flies are also heterozygous for Df(3R)Dl-FX3, and the number of bristles is restored almost to wild-type in N^264-47 ; wg^S107 double heterozygotes.

(Brennan et al., 1997)

Xenogenetic Interactions

Statement

Reference

Expression of N::Mmus\Notch1^{Nmf.Scer\UAS.T:Ecol\lexA} under the control of Scer\GAL4^da.G32 rescues the N^264-47 neurogenic phenotype.

(Kidd and Lieber, 2002)

Complementation and Rescue Data

Rescued by

N^264-47 is rescued by N^lexA.UAS/Scer\GAL4^da.G32

(Kidd and Lieber, 2002)

N^264-47 is rescued by N^ΔpolyQ.hs

(Lieber et al., 1993)