scholarly journals A gene location for the inheritance of the Cataract Fraser (CatFr) mouse congenital cataract

1987 ◽  
Vol 49 (3) ◽  
pp. 235-238 ◽  
Author(s):  
A. L. Muggleton-Harris ◽  
M. F. W. Festing ◽  
M. Hall
Keyword(s):  
Animal Models ◽  
Medical Research ◽  
Genetic Background ◽  
Congenital Cataract ◽  
Gene Location ◽  
Chromosome 10 ◽  
Molecular Aspects

SummaryAnimal models which emulate defects similar to those in man are required for medical research. Many investigations on the cellular, developmental and molecular aspects of cataractogenesis use the cataract Fraser (CatFr) mouse. This report shows that the CatFT and Lop lens abnormalities are linked, and are probably allelic genes on chromosome 10. It also shows that the CatFT gene is maintained on an inbred genetic background which differs from 79 other strains; it is proposed that this strain be named CAT.

scholarly journals Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia

2021 ◽  
Author(s):  
Shabeesh Balan ◽  
Tetsuo Ohnishi ◽  
Akiko Watanabe ◽  
Hisako Ohba ◽  
Yoshimi Iwayama ◽  
...  
Keyword(s):  
Prepulse Inhibition ◽  
Genetic Background ◽  
Posterior Probability ◽  
Human Study ◽  
Inbred Strains ◽  
Chromosome 10 ◽  
Significant Enrichment ◽  
The Brain ◽  
Schizophrenia Susceptibility

Abstract We previously identified quantitative trait loci (QTL) for prepulse inhibition (PPI), an endophenotype of schizophrenia, on mouse chromosome 10 and reported Fabp7 as a candidate gene from an analysis of F2 mice from inbred strains with high (C57BL/6N; B6) and low (C3H/HeN; C3H) PPI levels. Here, we reanalyzed the previously reported QTLs with increased marker density. The highest logarithm of odds score (26.66) peaked at a synonymous coding and splice-site variant, c.753G>A (rs257098870), in the Cdh23 gene on chromosome 10; the c.753G (C3H) allele showed a PPI-lowering effect. Bayesian multiple QTL mapping also supported the same variant with a posterior probability of 1. Thus, we engineered the c.753G (C3H) allele into the B6 genetic background, which led to dampened PPI. We also revealed an e-QTL (expression QTL) effect imparted by the c.753G>A variant for the Cdh23 expression in the brain. In a human study, a homologous variant (c.753G>A; rs769896655) in CDH23 showed a nominally significant enrichment in individuals with schizophrenia. We also identified multiple potentially deleterious CDH23 variants in individuals with schizophrenia. Collectively, the present study reveals a PPI-regulating Cdh23 variant and a possible contribution of CDH23 to schizophrenia susceptibility.

Rescue of developmental lens abnormalities in chimaeras of noncataractous and congenital cataractous mice

Development ◽  
1987 ◽  
Vol 99 (4) ◽  
pp. 473-480
Author(s):  
A.L. Muggleton-Harris ◽  
K. Hardy ◽  
N. Higbee
Keyword(s):  
Medical Research ◽  
Congenital Cataract ◽  
Biochemical Analysis ◽  
Growth Regulation ◽  
Cellular Level ◽  
Model System ◽  
Mouse Mutant ◽  
Phenotypic Characteristics ◽  
Cataractous Lens ◽  
Mouse Lens

In the study of the lens of a congenital cataractous mouse mutant (CAT), it has been shown that a loss of growth regulation at the cellular level causes gross lens abnormalities. The phenotypic characteristics of the cataractous mouse lens are similar to those seen in human congenital cataract and thus serves as a model system for medical research. In this present investigation, we have demonstrated that the abnormalities of the congenital cataractous lens can be rescued by forming chimaeras between DBA/2 (a noncataractous strain of mouse) and the CAT mutant. This report describes the histological, cellular and biochemical analysis of the resultant chimaeric eyes, and discusses possible mechanisms by which these results were achieved.

Editor Note Volume 3 Issue 1

2021 ◽  
Author(s):  
Ian James Martins
Keyword(s):  
Animal Models ◽  
Pulmonary Tuberculosis ◽  
Medical Research ◽  
Data Analytics ◽  
Healthcare Professionals ◽  
Scientific Process ◽  
Medical Field ◽  
Medical Researchers ◽  
Research Questions ◽  
High Standards

The articles published in Volume 3, Issue 1 maintain the high standards for peer-reviewed journals. These articles are related to Pulmonary Tuberculosis, Animal Models, COVID-19 vaccines, Dentistry Data Analytics, and the Psychosocial Impact of COVID-19 in children. The effort and expertise of these authors contribute to clinical and medical research and is the cornerstone of the scientific process with relevance to peer-review by medical researchers and healthcare professionals. The research questions in these articles are important and appropriate to the journal and adhere to journal standards and to the top 10% of papers published in the medical field.

scholarly journals Small Ruminants and Its Use in Regenerative Medicine: Recent Works and Future Perspectives.

2021 ◽  
Author(s):  
Rui D. Alvites ◽  
Mariana Vieira Branquinho ◽  
Ana Catarina Sousa ◽  
Bruna Lopes ◽  
Patrícia Sousa ◽  
...  
Keyword(s):  
Animal Models ◽  
Regenerative Medicine ◽  
Medical Research ◽  
Small Ruminants ◽  
Future Perspectives ◽  
Feeding Costs ◽  
Classical Models ◽  
Long Life ◽  
Near Future ◽  
Physiological Systems

Medical and translational scientific research requires the use of animal models as an initial approach to the study of new therapies and treatments, but when the objective is an exploration of translational potentialities, classical models fail to adequately mimic problems in humans. Among the larger animal models that have been explored more intensely in recent decades, small ruminants, namely sheep and goats, have emerged as excellent options. The main advantages associated to the use of these animals in research works are related to their anatomy and dimensions very similar to those of humans in most physiological systems, in addition to their low maintenance and feeding costs, tendency to be docile, long life expectancies and few ethical complications raised in society. The most obvious disadvantages are the significant differences in some systems such as the gastrointestinal, and the reduced amount of data that limits the comparison between works and the validation of the characterization essays. Despite everything, recently these species have been increasingly used as animal models for diseases in different systems, and the results obtained open doors for their more frequent and advantageous use in the future. The purpose of this review is to summarize the general principles related to the use of small ruminants as animal models, with focus on regenerative medicine, to group the most relevant works and results published recently and to highlight the potentials for the near future in medical research.

scholarly journals Zebrafish an emerging model for Preclinical Drug Discovery

2020 ◽  
Vol 11 (2) ◽  
pp. 1638-1648
Author(s):  
Mainak Chakraborty ◽  
Kalyan Roy ◽  
Arpan Sedhain ◽  
Pankaj Dhakal ◽  
Gauthaman Karunakaran
Keyword(s):  
Animal Models ◽  
Medical Research ◽  
Human Disease ◽  
Large Scale ◽  
Reverse Genetics ◽  
Random Mutagenesis ◽  
Disease Genes ◽  
High Fecundity ◽  
Muscle Disorders ◽  
Organ Systems

For understanding the pathogenesis of human disease at cellular and molecular level bio medical research depends on the use of animal models. Maximum animal models used in medical research of human disease are basically performed in murine system. Though there are advantages of using these animals, murine’s have long gestational period, sexual maturation rate and are expensive. These invertebrates lack many structures and organ systems that are involved in human disease pathogenesis. Forward-genetic screens and random mutagenesis based reverse genetics though possible in mouse and are currently underway; they cannot be done on a large scale as they require considerable staff and infrastructure support. Due to these drawbacks other animal models have been developed that provide initial genetic or drug target information. For developmental genetic studies larval zebrafish are used extensively due to their small size, external development, optical transparency, and accessibility in large numbers. Not only are they vertebrate, they also have high fecundity, which can be easily visualised and experimentally manipulated. 70% of all human disease genes have functional homologous in zebrafish. There has been significant increase in the use of zebra fish to elucidate the etiology of human disease like cancer, infectious diseases, cardiovascular disease, kidney disease, diabetes, blindness, deafness, digestive diseases, hematopoiesis, muscle disorders and neural disorders.

scholarly journals Lewis Dahl and the genetics of salt-induced hypertension

2007 ◽  
Vol 204 (7) ◽  
pp. 1507-1507 ◽  
Author(s):  
Hema Bashyam
Keyword(s):  
Animal Models ◽  
Genetic Background ◽  
High Salt ◽  
High Salt Diet ◽  
Salt Diet ◽  
Induced Hypertension ◽  
The 1960S

In the 1960s, Lewis Dahl bred two strains of rats that differed in their susceptibility to developing salt-induced hypertension. These animal models proved that hypertension induced by a high-salt diet is influenced by genetic background.

scholarly journals Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse

1981 ◽  
Vol 38 (3) ◽  
pp. 337-341 ◽  
Author(s):  
Mary F. Lyon ◽  
Susan E. Jarvis ◽  
Irene Sayers ◽  
Roger S. Holmes
Keyword(s):  
Congenital Cataract ◽  
New Method ◽  
Lens Opacity ◽  
Mutation Rates ◽  
Mouse Mutant ◽  
Chromosome 10 ◽  
Point Of Interest ◽  
New Gene ◽  
Medical Importance ◽  
Mutant Genes

Mouse mutant genes which result in defects similar to those of medical importance in man may be of value as models for the study of the defect concerned. We report here a new gene causing congenital cataract in the mouse, which may be useful in the understanding of cataract in man.A further point of interest is that Kratochvilova & Ehling (1979) have recently developed a new method of measuring increased mutation rates in the mouse, by examining offspring of animals treated with mutagens for the presence of cataracts due to mutant genes. For the purposes of this test it is valuable to have information on the number and map position of loci which can mutate to give cataracts.

scholarly journals Animal Models of IBD-Associated CRC and Colorectal Cancer Tumorigenesis

2015 ◽  
Vol 7 ◽  
pp. CMT.S18489
Author(s):  
Shuyi K. Fu ◽  
Ian C. Lawrance
Keyword(s):  
Colorectal Cancer ◽  
Animal Models ◽  
Medical Research ◽  
Current Understanding ◽  
Prevalent Disease ◽  
Excellent Tool

Colorectal cancer (CRC) is a highly prevalent disease, and despite advances in medical research, much remains unknown about CRC. As such, it is important to improve our current understanding of CRC. Several animal models for CRC exist, and they provide an excellent tool for studying CRC tumorigenesis. These models, however, have limitations, and a good understanding of the pathophysiology of these models is required in order to fully understand how closely they mimic human sporadic and colitis-associated CRC.

scholarly journals The Effect of a Coat Colour-Associated Genes Polymorphism on Animal Health – A Review

2015 ◽  
Vol 15 (1) ◽  
pp. 3-17 ◽  
Author(s):  
Krystyna M. Charon ◽  
Katarzyna R. Lipka
Keyword(s):  
Animal Models ◽  
Milk Production ◽  
Genetic Background ◽  
Molecular Mechanisms ◽  
Animal Health ◽  
Coat Colour ◽  
Pleiotropic Effect ◽  
Hereditary Diseases ◽  
Body Measurements ◽  
Appropriate Treatment

Abstract In recent years, the knowledge regarding molecular mechanisms of skin, hair and eye colouration in vertebrates has significantly broadened. It was found that some of the identified coat colour genes show negative pleiotropic effect. They are associated with hereditary diseases, often of a lethal character. Most of these diseases have their counterparts in humans. There is no effective treatment for these diseases, therefore animal models can help to identify the genetic background of diseases and to develop appropriate treatment. Much less is known on the association of coat colour with animal performance. However, there are reports on the effect of coat colour on body measurements and milk production in subtropical environments. The knowledge on pleiotropic effects of coat colour genes is important for breeders who should be aware of the consequences of their decision on mating animals with given genotype.

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