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Biology
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Animal Models for Gene Function and Disease Mechanisms
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Animal Models for Gene Function and Disease Mechanisms

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Zoology".

Deadline for manuscript submissions: closed (31 January 2022) | Viewed by 30682

Special Issue Editor

Prof. Dr. Hiroetsu Suzuki

E-Mail Website
Guest Editor
Laboratory of Veterinary Physiology, Faculty of Veterinary Science, School of Veterinary Medicine, Nippon Veterinary and Life Science University, Tokyo 180-8602, Japan
Interests: animal model; physiology; genetics; development; reproduction; nephrology; neuroscience; diabetes mellitus

Special Issue Information

Dear Colleagues,

Spontaneously mutated or genetically modified models are useful for studying gene functions, disease mechanisms, and therapeutic targets. In general, laboratory mice are often used for the approach. However, in humans and other species, we sometimes discover phenotypes that have not been recorded in knockout mouse. Considering the heterogeneity of animals, studies using several different animal models are necessary to validate conservations or differences of the data between different species.
Recently, genome editing has made it possible to create new disease models in various animal species and to analyze gene functions and pathogenesis using such models. In addition, using whole genome sequence analysis, it has become possible to identify the genes responsible for naturally occurring genetic diseases in various animal species. These technologies have made it possible to study gene functions and disease mechanisms at the molecular level in animal models.
In this context, this Special Issue welcomes submissions of original research articles, reviews, and communications characterizing disease models and analyzing their pathogenesis in various animal species. In addition, this Issue also welcomes clinical research using materials obtained from investigations of animals with diseases, comparative research of human and animal diseases, and veterinary research regarding species-specfic diseases of biological interest.
The goals are to list useful animal models with their phenotypes and to inform the readership of new findings obtained from them.

Prof. Dr. Hiroetsu Suzuki
Guest Editor

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Keywords

  • disease model 
  • genetic disease 
  • pathogenesis 
  • pathophysiology 
  • developmental anomaly 
  • gene function

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Published Papers (7 papers)

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Research

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12 pages, 1621 KiB  
Article
The BDNF Val66Met Polymorphism Does Not Increase Susceptibility to Activity-Based Anorexia in Rats
by Carla L. Pietrucci, Laura K. Milton, Erika Greaves, Aneta Stefanidis, Maarten van den Buuse, Brian J. Oldfield and Claire J. Foldi
Biology 2022, 11(5), 623; https://doi.org/10.3390/biology11050623 - 19 Apr 2022
Cited by 3 | Viewed by 2600
Abstract
Brain-derived neurotrophic factor (BDNF) is abundantly expressed in brain regions involved in both homeostatic and hedonic feeding, and it circulates at reduced levels in patients with anorexia nervosa (AN). A single nucleotide polymorphism in the gene encoding for BDNF (Val66Met) has been associated [...] Read more.
Brain-derived neurotrophic factor (BDNF) is abundantly expressed in brain regions involved in both homeostatic and hedonic feeding, and it circulates at reduced levels in patients with anorexia nervosa (AN). A single nucleotide polymorphism in the gene encoding for BDNF (Val66Met) has been associated with worse outcomes in patients with AN, and it is shown to promote anorectic behaviour in a mouse model of caloric restriction paired with social isolation stress. Previous animal models of the Val66Met polymorphism have been in mice because of the greater ease in modification of the mouse genome, however, the most widely-accepted animal model of AN, known as activity-based anorexia (ABA), is most commonly conducted in rats. Here, we examine ABA outcomes in a novel rat model of the BDNF Val66Met allelic variation (Val68Met), and we investigate the role of this polymorphism in feeding, food choice and sucrose preference, and energy expenditure. We demonstrate that the BDNF Val68Met polymorphism does not influence susceptibility to ABA or any aspect of feeding behaviour. The discrepancy between these results and previous reports in mice may relate to species–specific differences in stress reactivity. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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17 pages, 2911 KiB  
Article
Dopamine Modulates Drosophila Gut Physiology, Providing New Insights for Future Gastrointestinal Pharmacotherapy
by Samar El Kholy, Kai Wang, Hesham R. El-Seedi and Yahya Al Naggar
Biology 2021, 10(10), 983; https://doi.org/10.3390/biology10100983 - 30 Sep 2021
Cited by 6 | Viewed by 4242
Abstract
Dopamine has a variety of physiological roles in the gastrointestinal tract (GI) through binding to Drosophila dopamine D1-like receptors (DARs) and/or adrenergic receptors and has been confirmed as one of the enteric neurotransmitters. To gain new insights into what could be a potential [...] Read more.
Dopamine has a variety of physiological roles in the gastrointestinal tract (GI) through binding to Drosophila dopamine D1-like receptors (DARs) and/or adrenergic receptors and has been confirmed as one of the enteric neurotransmitters. To gain new insights into what could be a potential future promise for GI pharmacology, we used Drosophila as a model organism to investigate the effects of dopamine on intestinal physiology and gut motility. GAL4/UAS system was utilized to knock down specific dopamine receptors using specialized GAL4 driver lines targeting neurons or enterocytes cells to identify which dopamine receptor controls stomach contractions. DARs (Dop1R1 and Dop1R2) were shown by immunohistochemistry to be strongly expressed in all smooth muscles in both larval and adult flies, which could explain the inhibitory effect of dopamine on GI motility. Adult males’ gut peristalsis was significantly inhibited by knocking down dopamine receptors Dop1R1, Dop1R2, and Dop2R, but female flies’ gut peristalsis was significantly repressed by knocking down only Dop1R1 and Dop1R2. Our findings also showed that dopamine drives PLC-β translocation from the cytoplasm to the plasma membrane in enterocytes for the first time. Overall, these data revealed the role of dopamine in modulating Drosophila gut physiology, offering us new insights for the future gastrointestinal pharmacotherapy of neurodegenerative diseases associated with dopamine deficiency. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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11 pages, 2830 KiB  
Communication
Novel Severe Hemophilia A Mouse Model with Factor VIII Intron 22 Inversion
by Jeong Pil Han, Dong Woo Song, Jeong Hyeon Lee, Geon Seong Lee and Su Cheong Yeom
Biology 2021, 10(8), 704; https://doi.org/10.3390/biology10080704 - 23 Jul 2021
Cited by 5 | Viewed by 3724
Abstract
Hemophilia A (HA) is an X-linked recessive blood coagulation disorder, and approximately 50% of severe HA patients are caused by F8 intron 22 inversion (F8I22I). However, the F8I22I mouse model has not been developed despite being a necessary model to challenge pre-clinical study. [...] Read more.
Hemophilia A (HA) is an X-linked recessive blood coagulation disorder, and approximately 50% of severe HA patients are caused by F8 intron 22 inversion (F8I22I). However, the F8I22I mouse model has not been developed despite being a necessary model to challenge pre-clinical study. A mouse model similar to human F8I22I was developed through consequent inversion by CRISPR/Cas9-based dual double-stranded breakage (DSB) formation, and clinical symptoms of severe hemophilia were confirmed. The F8I22I mouse showed inversion of a 391 kb segment and truncation of mRNA transcription at the F8 gene. Furthermore, the F8I22I mouse showed a deficiency of FVIII activity (10.9 vs. 0 ng/mL in WT and F8I22I, p < 0.0001) and severe coagulation disorder phenotype in the activated partial thromboplastin time (38 vs. 480 s, p < 0.0001), in vivo bleeding test (blood loss/body weight; 0.4 vs. 2.1%, p < 0.0001), and calibrated automated thrombogram assays (Thrombin generation peak, 183 vs. 21.5 nM, p = 0.0012). Moreover, histological changes related to spontaneous bleeding were observed in the liver, spleen, and lungs. We present a novel HA mouse model mimicking human F8I22I. With a structural similarity with human F8I22I, the F8I22I mouse model will be applicable to the evaluation of general hemophilia drugs and the development of gene-editing-based therapy research. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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16 pages, 3105 KiB  
Article
Characterization of Enlarged Kidneys and Their Potential for Inducing Diabetes in DEK Rats
by Ayaka Domon, Kentaro Katayama, Takashi Yamada, Yuki Tochigi and Hiroetsu Suzuki
Biology 2021, 10(7), 633; https://doi.org/10.3390/biology10070633 - 8 Jul 2021
Cited by 1 | Viewed by 2691
Abstract
The kidneys participate in the regulation of systemic glucose metabolism via gluconeogenesis, insulin degradation, and the tubular reabsorption of glucose. The present study characterized rats from a strain of a novel type 2 diabetes model with enlarged kidneys (DEK). Histological and biochemical analyses [...] Read more.
The kidneys participate in the regulation of systemic glucose metabolism via gluconeogenesis, insulin degradation, and the tubular reabsorption of glucose. The present study characterized rats from a strain of a novel type 2 diabetes model with enlarged kidneys (DEK). Histological and biochemical analyses of DEK rats were performed to assess the relationships between their kidneys and hyperglycemia. The kidney weight of diabetic DEK (DEK-DM) gradually increased over time from the onset of diabetes, with the glomerular number being higher in DEK-DM than in normal DEK (DEK-cont). A positive correlation between blood glucose level and kidney weight was observed in DEK-DM. The similar glomerular size and single glomerular creatinine clearance in DEK-cont and DEK-DM indicated that glomerular hypertrophy and hyperfiltration were not involved in the renal enlargement. Uninephrectomy (1/2Nx) in DEK-DM resulted in a reduction in blood glucose level at 7–28 post-operation days, with this concentration remaining lower than in Sham group until 84 days post-operation. 1/2Nx also improved systemic conditions, including reduced body weight gain, polyuria, polydipsia, and hyperphagia. Plasma concentrations of Na, total cholesterol, albumin, and total protein were higher, and urinary excretion of glucose, urea nitrogen, and proteins were lower, in the 1/2Nx than in the Sham group. Remnant kidney weight was two-fold higher in the 1/2Nx than in the Sham group 84 days later. In addition, 1/2Nx resulted in renal tubular dilatation but not in the progression of fibrosis or glomerular lesions. Taken together, these findings indicate that enlarged kidneys were associated with the onset of diabetes and with the resistance to diabetic nephropathy in DEK-DM. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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14 pages, 2835 KiB  
Article
Oxidative Stress and Mitochondrial Damage in Dry Age-Related Macular Degeneration Like NFE2L2/PGC-1α -/- Mouse Model Evoke Complement Component C5a Independent of C3
by Iswariyaraja Sridevi Gurubaran, Hanna Heloterä, Stephen Marry, Ali Koskela, Juha M. T. Hyttinen, Jussi J. Paterno, Arto Urtti, Mei Chen, Heping Xu, Anu Kauppinen and Kai Kaarniranta
Biology 2021, 10(7), 622; https://doi.org/10.3390/biology10070622 - 4 Jul 2021
Cited by 7 | Viewed by 4033
Abstract
Aging-associated chronic oxidative stress and inflammation are known to be involved in various diseases, e.g., age-related macular degeneration (AMD). Previously, we reported the presence of dry AMD-like signs, such as elevated oxidative stress, dysfunctional mitophagy and the accumulation of detrimental oxidized materials in [...] Read more.
Aging-associated chronic oxidative stress and inflammation are known to be involved in various diseases, e.g., age-related macular degeneration (AMD). Previously, we reported the presence of dry AMD-like signs, such as elevated oxidative stress, dysfunctional mitophagy and the accumulation of detrimental oxidized materials in the retinal pigment epithelial (RPE) cells of nuclear factor erythroid 2-related factor 2, and a peroxisome proliferator-activated receptor gamma coactivator 1-alpha (NFE2L2/PGC1α) double knockout (dKO) mouse model. Here, we investigated the dynamics of inflammatory markers in one-year-old NFE2L2/PGC1α dKO mice. Immunohistochemical analysis revealed an increase in levels of Toll-like receptors 3 and 9, while those of NOD-like receptor 3 were decreased in NFE2L2/PGC1α dKO retinal specimens as compared to wild type animals. Further analysis showed a trend towards an increase in complement component C5a independent of component C3, observed to be tightly regulated by complement factor H. Interestingly, we found that thrombin, a serine protease enzyme, was involved in enhancing the terminal pathway producing C5a, independent of C3. We also detected an increase in primary acute phase C-reactive protein and receptor for advanced glycation end products in NFE2L2/PGC1α dKO retina. Our main data show C5 and thrombin upregulation together with decreased C3 levels in this dry AMD-like model. In general, the retina strives to mount an orchestrated inflammatory response while attempting to maintain tissue homeostasis and resolve inflammation. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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17 pages, 3546 KiB  
Article
Acute and Sub-Chronic Exposure to Artificial Sweeteners at the Highest Environmentally Relevant Concentration Induce Less Cardiovascular Physiology Alterations in Zebrafish Larvae
by Ferry Saputra, Yu-Heng Lai, Rey Arturo T. Fernandez, Allan Patrick G. Macabeo, Hong-Thih Lai, Jong-Chin Huang and Chung-Der Hsiao
Biology 2021, 10(6), 548; https://doi.org/10.3390/biology10060548 - 18 Jun 2021
Cited by 10 | Viewed by 5074
Abstract
Artificial sweeteners are widely used food ingredients in beverages and drinks to lower calorie intake which in turn helps prevent lifestyle diseases such as obesity. However, as their popularity has increased, the release of artificial sweetener to the aquatic environment has also increased [...] Read more.
Artificial sweeteners are widely used food ingredients in beverages and drinks to lower calorie intake which in turn helps prevent lifestyle diseases such as obesity. However, as their popularity has increased, the release of artificial sweetener to the aquatic environment has also increased at a tremendous rate. Thus, our study aims to systematically explore the potential cardiovascular physiology alterations caused by eight commercial artificial sweeteners, including acesulfame-K, alitame, aspartame, sodium cyclamate, dulcin, neotame, saccharine and sucralose, at the highest environmentally relevant concentration on cardiovascular performance using zebrafish (Danio rerio) as a model system. Embryonic zebrafish were exposed to the eight artificial sweeteners at 100 ppb and their cardiovascular performance (heart rate, ejection fraction, fractional shortening, stroke volume, cardiac output, heartbeat variability, and blood flow velocity) was measured and compared. Overall, our finding supports the safety of artificial sweetener exposure. However, several finding like a significant increase in the heart rate and heart rate variability after incubation in several artificial sweeteners are noteworthy. Biomarker testing also revealed that saccharine significantly increase the dopamine level in zebrafish larvae, which is might be the reason for the cardiac physiology changes observed after saccharine exposure. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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Review

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15 pages, 4525 KiB  
Review
Review of Animal Models to Study Urinary Bladder Function
by Jing-Dung Shen, Szu-Ju Chen, Huey-Yi Chen, Kun-Yuan Chiu, Yung-Hsiang Chen and Wen-Chi Chen
Biology 2021, 10(12), 1316; https://doi.org/10.3390/biology10121316 - 11 Dec 2021
Cited by 17 | Viewed by 6826
Abstract
The urinary bladder (UB) serves as a storage and elimination organ for urine. UB dysfunction can cause multiple symptoms of failure to store urine or empty the bladder, e.g., incontinence, frequent urination, and urinary retention. Treatment of these symptoms requires knowledge on bladder [...] Read more.
The urinary bladder (UB) serves as a storage and elimination organ for urine. UB dysfunction can cause multiple symptoms of failure to store urine or empty the bladder, e.g., incontinence, frequent urination, and urinary retention. Treatment of these symptoms requires knowledge on bladder function, which involves physiology, pathology, and even psychology. There is no ideal animal model for the study of UB function to understand and treat associated disorders, as the complexity in humans differs from that of other species. However, several animal models are available to study a variety of other bladder disorders. Such models include animals from rodents to nonhuman primates, such as mice, rats, rabbits, felines, canines, pigs, and mini pigs. For incontinence, vaginal distention might mimic birth trauma and can be measured based on leak point pressure. Using peripheral and central models, inflammation, bladder outlet obstruction, and genetic models facilitated the study of overactive bladder. However, the larger the animal model, the more difficult the study is, due to the associated animal ethics issues, laboratory facility, and budget. This review aims at facilitating adapted animal models to study bladder function according to facility, priority, and disease. Full article
(This article belongs to the Special Issue Animal Models for Gene Function and Disease Mechanisms)
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