FlyBase Allele Report: Dmel\Mad1[1]

General Information

Symbol

Dmel\Mad1¹

Species

D. melanogaster

Name

FlyBase ID

FBal0276814

Feature type

allele

Associated gene

Dmel\Mad1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Emre et al., 2011)

Mutagen

P-element activity

(Emre et al., 2011)

Progenitor genotype

P{EPgy2}Drep2^EY12060

(Emre et al., 2011)

Caused by aberration

Df(2R)Mad1¹

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a 2225bp deletion extending from the original insertion site. The deletion encompasses the entire intergenic region between Drep-2 and Mad1 and the first 814bp of the Mad1 coding sequence (removing the first 272 of 730 codons of Mad1). The first transcription start site of Drep-2 is also removed.

(Emre et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:9,290,586..9,292,810 [-]

Comment:

2225 bp deletion resulting from the imprecise excision of P{EPgy2}Drep2^EY12060, which removes the intergenic region between Drep2 and Mad1 and extends through codon 272 of Mad1. It also removes the first transcription start site of Drep2

(Emre et al., 2011)

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 microcephaly

CEA

(Poulton et al., 2017)

CEA with Sas-4^s2214

(Poulton et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of microcephaly

is exacerbated by Sas-4^s2214

(Poulton et al., 2017)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal mitotic cell cycle | larval stage

(Emre et al., 2011)

abnormal neuroanatomy | third instar larval stage

(Poulton et al., 2017)

abnormal size | third instar larval stage

(Poulton et al., 2017)

viable (with Df(2R)w45-30n)

(Emre et al., 2011)

Phenotype Manifest In

kinetochore | larval stage

(Emre et al., 2011)

larval brain | third instar larval stage

(Poulton et al., 2017)

mitotic spindle | larval stage

(Emre et al., 2011)

neuroblast | larval stage

(Emre et al., 2011)

Detailed Description

Statement

Reference

Mad1¹/Df(2R)w45-30n transheterozygous third instar larval brains display a significant decrease in overall volume, but no obvious defects in the tissue organization of the optic lobe, in the size of the medulla, or in the number of medullar neuroblasts, as compared to controls.

(Poulton et al., 2017)

100% of Mad1¹/Df(2R)w45-30n animals survive to adulthood under uncrowded conditions.

The mitotic index of mutant larval brains does not increase after incubation with colchicine, indicating the lack of a functional spindle assembly checkpoint.

Mitotic timing in mutant neuroblasts is no faster than in wild type.

Mutant larval neuroblasts show a high frequency of abnormal anaphases: 68.4% of anaphases have one or more severely lagging kinetochores. In 28.9% of cases, severely lagging chromatids can be seen to be merotelic (K-fibers emanate towards both spindle poles). The lagging kinetochores also sometimes seem to originate from apparent "association" of non-sister kinetochore pairs. 44.7% of anaphases have a bent spindle.

(Emre et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Df(2R)w45-30n/Mad1¹ has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Sas-4^s2214/Sas-4^s2214

(Poulton et al., 2017)

Df(2R)w45-30n/Mad1¹ has abnormal size | third instar larval stage phenotype, enhanceable by Sas-4^s2214/Sas-4^s2214

(Poulton et al., 2017)

Phenotype Manifest In

Other

Statement

Reference

Df(2R)w45-30n/Mad1¹, Sas-4^s2214 has medulla | third instar larval stage phenotype

(Poulton et al., 2017)

Df(2R)w45-30n/Mad1¹, Sas-4^s2214 has central protocerebral neuroblast | third instar larval stage phenotype

(Poulton et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

The decreased brain volume phenotype observed in Mad1¹/Df(2R)w45-30n transheterozygous third instar larvae is strongly enhanced by Sas-4^s2214 homozygosity; these double mutant brains exhibit loss or strong reduction of the medulla, and high disorganization of the central brain neuroblasts, as compared to single mutants and wild-type controls.

(Poulton et al., 2017)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Mad1¹ is rescued by Mad1^C.GFP

(Emre et al., 2011)

Mad1¹ is rescued by Mad1^N.mCherry

(Emre et al., 2011)

Mad1¹ is rescued by Mad1^C.mCherry

(Emre et al., 2011)

Not rescued by

Mad1¹ is not rescued by Mad1^KAPA

(Emre et al., 2011)

Mad1¹ is not rescued by Mad1^KAPA.GFP

(Emre et al., 2011)

Comments

Mad1^KAPA and Mad1^{KAPA.T:Avic\GFP} each fail to rescue the mitotic anaphase defects of Mad1¹.

(Emre et al., 2011)

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

Mad1¹

(Défachelles et al., 2015)

mad1¹

(Shapiro et al., 2025, Poulton et al., 2017, Derive et al., 2015, Althoff et al., 2012, Emre et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (6)

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