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Indeed, although asymptomatic under resting conditions, VLCAD−/− mice present with hypoglycemia, hepatopathy, and skeletal myopathy during catabolism [9],[9]].
Liver-specific Bap1 null mice present with fully penetrant perinatal lethality, severe hypoglycemia, and hepatic lipid deficiency.
Consequently, Ces1d knockout mice present with decreased plasma lipid levels (Wei et al., 2010; Lian et al., 2012a, b) (Fig. 3).
This is by no means trivial in the two species investigated: body weight differs by an order of magnitude, and mice present with a twofold to threefold higher metabolic expenditure on a per gram basis.
While inhibition/ablation of Ces1d activity has a positive effect on lipid and energy metabolism, Ces1g knockout mice present with increased weight gain, hyperinsulinemia, insulin resistance, and decreased energy expenditure (Quiroga et al., 2012a).
By contrast, FasL-deficient mice present with increased corneal graft rejection and suture induced neovascularization [45], [46].
These mice present with an elevated incidence of spontaneous histologic lesions, including cataracts, hyperplasia of Brunner's gland and mucosal hyperplasia in the duodenum.
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We have observed that the Mecp2-null mice presented with episodes of diarrhea, and decided to study the intestinal phenotype in these mice.
Similar results were obtained with PACAP-knockout mice, presenting with diminished light-aversive behavior (i.e., photophobia), decreased c-fos expression in the TNC and TG, and reduced meningeal blood flow following nitroglycerin administration compared to wild-type controls [74].
Their main findings were that mice presented with a progressive drop in whole body O2 uptake and a concurrent fall in body temperature, which was only partially restored by external warming.
As we have previously demonstrated, the absence of ClC-2 produces a severe reduction of NaCl absorption [29], and Scl9a3 −/− (Nhe3-null) mice presented with slight diarrhea due to reduced sodium absorption in the colon [30].
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