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].
Here, we conducted a detailed evaluation of the Harlequin mouse phenotype, including the biochemical abnormalities in various tissues.
Accordingly, Akt1-/ mice and Akt2-/ mice show similar phenotypes including dwarfism, except that only the latter exhibit severe diabetes [10] [13].
In the triply n/i/eNOS−/− mice, but not in singly eNOS−/− mice, several cardiovascular phenotypes, including arteriosclerosis/atherosclerosis, myocardial infarction, and dyslipidemia, have been described.
A conventional deletion of the gene for cGKI has been studied in mice and multiple phenotypes, including elevated BP, have been observed [37].
Important roles of Dlk1 in muscle development is also evident by the observations that Dlk1-null mice show distinct phenotypes including increased mortality during late gestation and early neonatal development, skeletal malformations, and decreased growth rates accompanied by increased adiposity [26].
Although null mutant mice show severe phenotypes including embryonic lethality, human patients appear to show various symptoms depending on the degree of remaining activity of the enzymes.
The Fto knockout mice showed multiple phenotypes, including the increased possibility of postnatal lethality, postnatal growth retardation, and reduced fat mass.
We examined brains of 7-month-old APP/PS1, APP/PS1; Cofilin+/−, and WT littermate mice for neurodegenerative phenotypes, including glial fibrillary acidic protein (GFAP) for astrogliosis as well as PSD95 (postsynaptic) and Synapsin I (presynaptic) for synaptic integrity.
