Table 2.
Animal models of MCPH.
| Gene | Model | Method | Phenotype |
|---|---|---|---|
| MCPH1 MICROCEPHALIN | Mouse | Knock-out (deletion of exon 2) | Genomic instability, growth retardation, male infertility, and increased radiation sensitivity |
| Mouse | Knock-out (gene trap) | Shorter life span, improper chromosome condensation | |
| Mouse | Conditional knock-out (recombination) | Specific reduction of the cerebral cortex at birth | |
| Fly | Knock-out (p-element excision) | Abnormal spindles during embryonic cell cycle | |
|
| |||
| WDR62 | Rat | shRNA knock-down | Premature differentiation of neuroprogenitors into neurons |
| Zebrafish | Morpholino-mediated knock-down | Reduction in head and eye size | |
| Mouse | Knock-out (deletion of the WDR62 locus) | Reduced brain size | |
|
| |||
| CDK5RAP2 | Fly | Knock-out (chemical mutagenesis) | Disconnection between centrosome and PCM |
| Mouse | shRNA knock-down | Premature neuronal differentiation | |
| Hertwig's anemia mouse | Inversion of exon 4 | Reduced brain size | |
|
| |||
| ASPM | Zebrafish | Morpholino-mediated knock-down | Reduction in head and eye size |
| Mouse | siRNA knock-down | Premature differentiation of telencephalic neuroprogenitor cells | |
| Mouse | Knock-out (removal of exons 2 and 3) | Reduced brain size | |
| Mouse | Knock-out (gene trap) | Mild microcephaly, massive loss of germ cells | |
| Fly | Mutagenesis (x-irradiation) | Spindle positioning defects, increased apoptosis | |
|
| |||
| CENPJ | Mouse | Conditional knock-out (truncated mRNA) | Intrauterine growth retardation |
| Fly | Knock-out (transposon insertion) | Loss of centrioles, abnormal spindle | |
| Worm | siRNA knock-down | Loss of centrioles, abnormal centrosome size/organization | |
|
| |||
| STIL | Mouse | Knock-out (removal of exons 3 to 5) | Embryonic lethality |
| Zebrafish | Morpholino-mediated knock-down | Embryonic lethality | |
|
| |||
| CEP135 | Fly | Knock-out (transposon insertion) | Abnormal centrioles, immotile cilium |
| Alga | Insertion mutagenesis | Abnormal centrioles, abnormal cell division, and slow growth | |
| Protozoa | siRNA knock-down | Abnormal centrioles | |
|
| |||
| CEP152 | Fly | Chemical mutagenesis | Defective centrosomes, no zygotic division |
| Zebrafish | Morpholino-mediated knock-down | Ciliary defects | |
|
| |||
| ZNF335 | Mouse | shRNA knock-down | Impaired progenitor cell proliferation |
| Mouse | Knock-out (removal of promoter and exons 1 and 2) | Severely reduced cortical size | |
| Mouse | Knock-out (gene trap insertion) | Embryonically lethal | |
|
| |||
| CDK6 | Mouse | Knock-out (removal of 1st coding exon) | Viable, develop normally, hematopoiesis slightly impaired |