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Aspects of the human syndrome exhibited by this mutant include retinal degeneration, male infertility and obesity resulting from hyperphagia; obese mice were hyperleptinaemic and demonstrated reduced locomotor activity.

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A few colonies initiated by an mDEL1 deletion mutant include cells with a larger stem deletion that removes the polar UGA mutation.

The genes positively affected by Phx1 (or repressed in the Δphx1 mutant) include those known or predicted to function in thiamine biosynthesis, carbohydrate metabolism, stress responses, transport, RNA metabolic process, and non-coding RNA (Table 1, Table S1).

This was accomplished by the construction of a triple mutant including the Y177F substitution in BCR and deletions of the SH2 and the C-terminal proline-rich domains of ABL.

(A ) The failure of RAB-3/SV dissociation caused by exocytosis mutants, including unc-2 and unc-13, is bypassed by mutation of snt-1.

Furthermore, mutations in AMP1 homologs in maize and rice confer similar pleiotropic phenotypes to those exhibited by Arabidopsis amp1 mutants, including altered plastochron [ 24, 25].

Although the basis of the det1 dwarf phenotype is not entirely clear, it is partially suppressed by the ted mutants, including hy5 (ted5) and the peroxisomal protein gene ted3, suggesting that transcription and peroxisome function play a role (Chory 1992; Pepper and Chory 1997; Hu et al. 2002).

Phenotypes triggered by M6 downregulation in hypomorphic mutants included egg collapse and egg permeability, thus suggesting M6 involvement in eggshell biosynthesis.

For example, many diseases affecting blood formation and red blood cell physiology have been either explained by or modeled in zebrafish mutants, including the identification of previously uncharacterized genetic defects causing human disease (Donovan et al., 2000; Donovan et al., 2005; Sham et al., 2005; Chen et al., 2010; Wang et al., 2011b).

Other possible consequences of the inhibition of SIRT1 activity by mutant huntingtin include decreased activation of TrkB, the receptor for BDNF, and Foxo3a, a transcription factor linked to BDNF and DARPP32 expression in neurons.

It has been elucidated that individual phytochromes display both unique and overlapping roles in rice photomorphogenesis by characterization of all rice phytochrome mutants including single mutants, all combinations of double mutants as well as triple mutants.

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