Li, J. et al. Altered metabolic responses to intermittent hypoxia in mice with partial deficiency of hypoxia-inducible factor-1alpha.
The recN mutation produced a partial deficiency in the repair of double-strand breaks, while the recJ mutation produced a deficiency in the repair of daughter-strand gaps in uvrB recB cells (but not in uvrB cells), and a deficiency in the repair of both daughter-strand gaps and double-strand breaks in uvrA recBC sbcBC cells.
In heterozygous females, brain copper levels tended to be lower compared to wild type whereas neurochemical analyses revealed higher dihydroxyphenylacetic acid:dihydroxyphenylglycol (DOPAC DHPG) and dopamine:norepinephrine (DA NE) ratios compared to normal (P = 0.002 and 0.029, respectively), consistent with partial deficiency of dopamine-beta-hydroxylase, a copper-dependent enzyme.
Partial deficiency of erythrocyte spectrin in hereditary spherocytosis.
Given the estimated incidence of ACE inhibitor-induced angioedema of 0.1 to 1.0%% [4] and the large number of patients on ACE inhibitors, one theory is that affected individuals have an underlying partial deficiency of C-1 esterase [2].
Hence, haploinsufficiency of Pkd1 had greater effects on bone than partial deficiency of Kif3a.
To circumvent this problem, we generated incremental deletions of Smad1 and Smad5 to achieve a partial deficiency of BMP signaling in chondrocytes.
Mice with a partial deficiency in Pol β expression (Pol β heterozygote mice) have an elevated mutant frequency in male germ cells [27] and a small increase in the incidence of lymphoid hyperplasia and adenocarcinoma [56].
To further understand the role of BMP and TGFβ signaling in the postnatal growth plate and to elucidate potential crosstalk between both signaling pathways we generated and compared two mouse models with partial deficiency of either BMP or TGFβ signaling in the growth plate.
Even though partial deficiency of Kif3a did not affect primary cilia number or formation, haploinsufficiency of Kif3a might disrupt IFT necessary for normal hedgehog signaling [18], [45], [51], [53], [54], [55], which in turn could counter the effects of deficiency of Pkd1 signaling [56], [57].
Partial deficiency of 11β-HSD1 walsolso atheroprotective.
