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In the past few years several spontaneous or engineered mouse models with mutations in Ca2+ channel genes have become available, providing a powerful approach to defining Ca2+ channel function in vivo.
There have been recent advances in outlining the phenotypes and in the functional analysis of mouse models with mutations in genes encoding the pore-forming subunits of CaV2.1 (P/Q-type), CaV2.2 (N-type) and CaV2.3 (R-type) Ca2+ channels, the channels involved in controlling neurotransmitter release at mammalian synapses.
Single-node perturbations were developed in mouse models with mutations in either Apc (namely, Apc1638N+/−) or Cdkn1a (Cdkn1a−/−).
In literature, several autism models with mutations in Foxp2, Nlgn4, and Tsc2 exhibit reduced USV [59] [61].
Dysregulation of the mTOR pathway has not only been implicated in ADPKD, but in a number of other renal cystic disorders such as ARPKD [47] and several rodent models with mutations in other cystoprotein genes [17], [48].
Epidemiological and neurophysiological studies and studies in transgenic rodent models with mutations in the SOD1 gene suggest that the actual pathogenic process begins much earlier and not only involves neurons but also T-cell and glial cell populations as well as endothelial cells involved in maintaining the blood-brain barrier [6].
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In this way, for the mean-field models with mutation process satisfying detailed balance (1, 2 and 4), the plot represents in logarithmic scale the selection factor Z-1exp [- β i h(a)] (Z is a normalization constant).
An animal model with mutations in PDGFRα leading to excessive kinase activity was created recently.
Here, following the work by [ 8], we extend the mutation tree from [ 10] into a nonlinear model with mutations (1)–(5).
Three mutant mice and one zebrafish model with mutations in Otop1 have been described: tilted (tlt) [ 6]; mergulhador (mlh) [ 7]; inner ear defect (ied) [ 8]; and backstroke (bks) [ 9], respectively.
A mouse model with mutations in both CYP1B1 and Tyr was also developed and revealed that Tyr mutation modifies the phenotype associated with inheritance of mutant orthologs of CYP1B1 and Foxc1, both of which have been shown to be involved in human angle-closure glaucoma [ 96, 97].
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