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Both mouse mutants exhibit a cranial neural tube closure defect resulting in an exencephaly.
Out of the mutant mice that have been characterized to date, the Cyp26a1 and Bmp7 Tsg engineered mouse mutants exhibit a phenotype that is most similar to the human condition, making them the most suitable models for studying and understanding the pathogenesis of this human malformation.
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Collectively, the Tex19.1−/− mouse mutant exhibits abnormal spermatogenesis, defective chromosomal synapsis, and incomplete penetrance of embryonic lethality preferentially affecting females, all of which are present in the Ubr2−/− mouse mutant [13].
In addition, both human and mouse MATR3 mutants exhibit similar BAV, CoA and PDA phenotypes.
Additionally, in mice, Grh mutants exhibit defects of the salivary and kidney ducts and eyelid closure [ 26- 28], and in humans, a single nucleotide polymorphism found in GRHL2 is associated with age-related hearing impairment [ 29].
Itgb6 mouse knock-out mutants exhibit severe pneumonia and an increase in granulocyte recruitment to the lung [ 38].
In addition, mouse mutants that exhibit chronic OM have been reported.
In mice, mutants that exhibit decreased mitochondrial respiration such as Surf1 −/− (mutation in cytochrome c oxidase) [ 8] and Mclk1 +/− (heterozygous knockout of the mouse homolog of clk-1) have long life spans [ 7].
A potential role for PCP in NTDs first came to light following positional cloning of Vangl2 (the homologue of Drosophila strabismus/Van gogh) in the loop-tail mouse mutant which exhibits the severe NTD, craniorachischisis (91, 92).
33 34 Additionally, Sirt1-CKO mice or Sirt1 mutant mice exhibit enhanced osteoarthritic cartilage destruction, 34 35 suggesting that SIRT1 plays a cartilage-protective role.
The miR-96 mouse mutant diminuendo exhibits deafness and arrested hair cell functional and morphological differentiation.
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