On the other hand, detailed analysis of a few of the mouse mutants suggests that isolated NTDs can also result from the effect of hypomorphic alleles, combinations of heterozygous mutations, genetic background effects and/or gene-environmental interactions.
However, many additional phenotypes were detected in the mouse mutants suggesting additional features that might also occur in patients that have hitherto not been reported.
Collectively, increased susceptibility of IFN-γR−/− mice to the fopC mutant suggests that IFN-γ was one of the host components responsible for the attenuation of KKF332.
Here, we show that mutation in Scn8a is associated with peripheral neural hearing impairment and paroxysmal motor dysfunction in a novel mouse mutant and suggest a role for SCN8A in these processes.
The presence of a cleft palate phenotype in Gad1, Viaat and Gabrb3 mutant mice suggests that the three genes function in a GABA signaling pathway required for palatogenesis.
The persistent upregulation of ROS related proteins in the livers of irradiated null mutant mice suggests that ROS generation continues after the initial DNA damaging event.
The downregulation of CDKN1B found in prostate lesions in Men1 mutant mice suggests the in vivo importance of CDKN1B inactivation in the tumorigenesis related to Men1 inactivation, similar to observations in other mouse Men1 tumour models [ 12, 37- 39].
Regardless of the mechanism, our finding that treatment with the synapse-specific AchE.I pyridostigmine restores appropriate synaptic function and rescues muscle strength in Dysferlin mutant mice suggests that elevating synaptic Ach levels can compensate for this defect.
The observation of deregulated AR expression in the cancerous lesions found in Men1 mutant mice suggests that menin inactivation and subsequent AR deregulation in these cells may lead to the disturbance of the AR pathway, which could in turn promote the progression to cancer.
"The absence of both cervical and lumbar rhythms in Dbx1 mutant mice suggests that in addition to its inspiratory rhythmogenic role in the preBötC, Dbx1 is essential for the development of neurons necessary for the expression of rhythmic respiratory output from other motor pools, although the exact location of these neurons is, as yet, unknown".
