FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MCPH1d1
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General Information
Symbol
Dmel\MCPH1d1
Species
D. melanogaster
Name
FlyBase ID
FBal0241999
Feature type
allele
Associated gene
Dmel\MCPH1
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
P-element activity
(Brunk et al., 2007)
Progenitor genotype
P{GawB}MCPH1NP6229
(Brunk et al., 2007)
Cytology
Description

A 1.2 kb deletion involving exons 1-3 of MCPH1.

(Brunk et al., 2007)
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 ( 1 )
      Disease
      Evidence
      References
      model of  microcephaly
      CEA
      (Brunk et al., 2007)
      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

      MCPH1d1/MCPH1d2 and MCPH1d1/Df(2R)BSC39 animals are viable with an early maternal effect lethal phenotype.

      The homozygous MCPH1d1 maternal effect lethal phenotype involves cell cycle arrest in a metaphase-like stage.

      At early developmental stages, homozygous MCPH1d1 embryos lacking maternal MCPH1 display at most a narrow zone of clearing of cytoplasm around the egg periphery without pole cell formation or cellularisation.

      Homozygous MCPH1d1 embryos lacking maternal MCPH1 show marked slowing in nuclear division compared with wild-type embryos. Morphologically, they also exhibit an abnormal spatial distribution of nuclei compared with wild-type embryos. Nuclei in the mutants fail to migrate to the periphery to form the syncytial blastoderm. The terminal nuclei are in a metaphase-like state, have condensed fragmented DNA, broad mitotic spindles, and frequent separation of centrosomes from spindle poles. Numerous detached centrosomes are seen spread throughout the embryos. Monopolar and multipolar spindles as well as acentrosomal broad-based spindles can be observed in the terminally arrested embryos. Centrosomal abnormalities are present from the first mitotic cycle.

      (Brunk et al., 2007)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially rescued by

      MCPH1d1 is partially rescued by MCPH1UASp.L.Tag:MYC/Scer\GAL4VP16.mat.αTub67C

      (Brunk et al., 2007)

      MCPH1d1 is partially rescued by MCPH1UASp.S.Tag:MYC/Scer\GAL4VP16.mat.αTub67C

      (Brunk et al., 2007)
      Comments

      Scer\GAL4mat.αTub67C.T:Hsim\VP16-driven MCPH1Scer\UAS.P\T.T:Hsap\MYC.S partially rescues the embryonic lethality of 21.8% of the MCPH1d1 mutant embryos, whereas very few embryos (2.6%) are rescued with Scer\GAL4mat.αTub67C.T:Hsim\VP16-driven MCPH1Scer\UAS.P\T.T:Hsap\MYC.L.

      (Brunk et al., 2007)
      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
      MCPH1d1
      mcph1d1
      (Brunk et al., 2007)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)