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Table 3 Tabular representation of MCPH animal models

From: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Human Gene for MCPH Animal Ortholog/s of Human Gene Animal Model Phenotype References
MCPH1 /Microcephalin mcph1-/-(drosophila/mice) Reduced protein recruitment to centrosomes and formation of abnormal spindles, missegregation of DNA, aberrant cytokinesis, changes in cell-cycle progression and defects in DNA damage repair. Adult brain sizes are reported to be normal in drosophila and infertility has been shown in mice [1, 45, 56, 59]
CDK5RAP2 Cnn-/- (drosophila) Centrosome dysfunction loss of connection between Centrosomes and pericentriolar matrix) Only subtle defects of asymmetric divisions and Brains are reportedly of normal size [1, 45, 68]
ASPM asp-/-(drosophila) Aspm-/-(mice) (drosophila) incorrect centrosome as microtubule-organizing center, mitotic spindle positioning defect, cell cleavage plane positioning defect during asymmetric cell division and spermatogenesis defect (mice) defects in meiosis I and II, affecting the coordination of chromosome segregation and spindle positioning, transgene rescues the microcephaly phenotype but does not produce a gain of function. reduce fertility in males and females mice but do not alter copulation frequency. [1, 45, 8284]
CENPJ SAS-4-/-(drosophila, c. elegans) (drosophila) loss of centrioles, abnormal spindle formation and DNA segregation defects. Mutant flies develop into morphologically normal adults without cilia or flagella and die shortly after birth (c. elegans) loss of centrioles, abnormal control of centrosome size (centrosome organization) [1, 45, 9295]
STIL Sil-/-(mice) csp-/- (zebra fish) (mice) knockout of SIL is embryonic lethal at E10.5. Between E7.5 and E8.5. the knockout embryos are smaller, display pericardial swelling, midline neural tube defects, failure of neural tube closure and holoprosencephaly. Failure in left-right specification. Due to block in Sonic Hedgehog (Shh) signalling, and increased apoptosis [1, 98100]
   (Zebra fish) embryonic lethal with increased number of mitotic cells with defects including mono-polar spindles, loss of polarity, misaligned chromosomes, and broadened spindle poles.