Amino acid replacement: N363I.
A11898550T
N316I | MCPH1-PA; N363I | MCPH1-PB; N316I | MCPH1-PC; N363I | MCPH1-PD
N363I
Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.
Homozygous females are completely sterile; embryos derived from these females arrest in a metaphase-like state in cycles 1-8.
Embryos derived from MCPH1Z1861/MCPH1Z0978 females arrest with condensed chromosomes and unevenly spaced nuclei. Asynchronously dividing nuclei and centrosome duplication prior to chromosome segregation are often seen. Tubulin foci are often missing from one or both poles of mitotic spindles, which are typically shorter or more barrel-shaped than normal. Chromosomes are poorly aligned and are occasionally displaced from the metaphase plate. Spindles with centrosomal detachment at one or both poles (43.6%) and spindles with more than one centrosome per pole or ectopic centrosomes within the spindle (46.0%) are seen.
Chromatin bridging is seen in 68.3% of late anaphase-to-telophase figures in embryos derived from MCPH1Z1861/MCPH1Z0978 females. Spindle pole-to-pole distances are increased dramatically compared to wild-type figures.
MCPH1Z4050/MCPH1Z0978 is partially rescued by Scer\GAL4VP16.nanos.UTR/MCPH1B.UASp