A New Genetic Variant of MDX Mice: Study of the Phenotype

Abstract

Genetic selection in a colony of mdx mice (suffering from X-chromosome-linked muscular dystrophy) resulted in generation of their new genetic variant. In this new variant, the genetic, biochemical, and histological markers of muscular dystrophy are combined with signs of oculocutaneous albinism (skin and fur depigmentation), transillumination of the iris, sharply reduced pigmentation of the retinal epithelium, and increase of the eyeball refraction). Two sensorimotor tests (negative geotaxis and wire back down hanging) detected other phenotypical characteristics of albino mdx mice carrying, in addition to the mutation in the dystrophin gene exon 23 (intrinsic of the "classical" black mdx mice), an extra mutation responsible for pigmentation disorders. Slow geotaxis, despite longer wire back down hanging capacity, was regarded as aggravation of the neurological dysfunction in albino mdx mice in comparison with black mdx mice.

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

“…For example, albino- mdx mice show more severe neurological dysfunction and higher circulating cytokines ( Stenina et al, 2013 ). BALB/c- mdx and C3H- mdx mice are less susceptible to sarcoma ( Krivov et al, 2009 ; Schmidt et al, 2011 ; Stenina et al, 2013 ). Immune-deficient nude- mdx and scid-mdx mice show less fibrosis ( Farini et al, 2007 ; Morrison et al, 2000 ).…”

Cytokine profile of the blood in mice with normal and abnormal heart rhythm

“…In cardiology, the elevation of proinfl ammatory cytokine concentrations accompanying various pathologies, including some arrhythmias [5], is considered to be a proof for the important role of infl ammatory processes in the pathogenesis of heart diseases. On order to go out of the scope of the concept of cytokines as exclusively laboratory markers of infl ammation, evaluate the contribution of the cytokine system in myocardial damage/reparation, and determine the principles of their therapeutic use in cardiology, animal models of heart diseases are needed.We previously obtained a new strain of mdx mice, so-called mdx albino mice; genetic marker of this strain is a mutation in the muscular protein dystrophin gene and an additional genetic defect responsible for oculo-cutaneous albinism [1]. Albino mice with the same genetic basis as mdx albino mice, but carrying normal dystrophin gene served as the control.…”

“…We previously obtained a new strain of mdx mice, so-called mdx albino mice; genetic marker of this strain is a mutation in the muscular protein dystrophin gene and an additional genetic defect responsible for oculo-cutaneous albinism [1]. Albino mice with the same genetic basis as mdx albino mice, but carrying normal dystrophin gene served as the control.…”

Remote Measurement of Respiratory Rate in Laboratory Mice during Studies of mdx-Model of Progressive Duchenne Muscular Dystrophy

“…Half sum of measurements, breaths/min with known and controllable genotypes that are managed by experts of the Department of Immunology of Pirogov RNRMU [4].…”

“…Laboratory models of the disease are of great value for such studies, among which the best known are the so called mdx mice [3,4]. During experimental studies with them, it is often necessary to monitor heart rate, respira tory rate, blood gases, etc.…”