This seasonal effect is consistent with findings for other mouse phenotypes, including bone mineral density [7].
It would further reveal whether mouse phenotypes include Rett-typical abnormalities in sleep/wake cycle [25,26] or food intake patterns as a mechanism underlying the observed obesity in patients [27] and Mecp2 mutant mice [4,5,16,18,19,28].
Additional pathological correlates between the human and mouse phenotypes include the ability of TGF-β interference to reduce skin thickness, either genetically by pairing the Tsk allele with Tgfβ haploinsufficiency or pharmacological inhibition of Smad3-mediated transcription in Tsk/+ mice [ 75, 76].
Other features associated with the mouse PPCD1 phenotype include corneal neovascularization (Figure 2I) and anterior synechias (Figure 2J).
Wnk4 D561A/+ mice exhibited a PHAII phenotype, including increased thiazide sensitivity, indicating that NCC is activated in the kidneys of the mutant mice.
Following pIpC treatment of adult mice, heterozygous mice developed a PV-like phenotype, including markedly increased haemoglobin, haematocrit, red blood cells, leukocytosis, thrombocytosis, splenomegaly, reduced serum erythropoietin (Epo) levels and Epo-independent erythroid colonies.
In previous works [10], [11], we showed that heterozygous Scn5a deficient (Scn5a+/−) mice convincingly recapitulate PCCD phenotype including progressive impairment of atrial and ventricular conduction with aging.
Moreover, NCC-deficient mice have a similar phenotype, including hypomagnesaemia [ 36, 40, 41].
These transgenic mice show a profound phenotype including loss of motor coordination, tremors, weight loss and premature death.
Examination of integrin α2 knockout mice showed a multifaceted phenotype including defects of branching morphogenesis, hemostasis and a partially defective platelet interaction with collagen [ 7, 21].
