Phenotype Image Detail

Image

Caption

A: Hematoxylin/eosin (i-iii) and NADH-TR (iv-vi) stainings of muscle cross sections from Mtm1^tm1.1Jman/Y (i,ii,iv & v) and wild type (iii & vi) hindlimbs of 6 week old mice (supero-posterior compartment, magnification x1,000). Note the central (->), peripheral (l) and anarchical (*) accumulation of hematoxylin staining and NADH-TR reactivity that labels mitochondria and endoplasmic reticulum, as compared with the homogeneous pattern of staining in normal muscle. Occasional fiber splitting (<) can be observed in mutant muscle, as reported in centronuclear myopathy. B: Transmission electron micrographs of hindlimb skeletal muscle (biceps cruralis) from mutant mice. Longitudinal section of a muscle fiber (Left, 5 weeks) with a centrally located nucleus and perinuclear accumulation of mitochondria, glycogen, and ER is shown (->). Disorganization of myofibrils and sarcomere disarrays is shown. Dilatations of mitochondria in the micrograph are probably artefactual (magnification, x10,000). Longitudinal section of adjacent myofibers with either normal or degenerative appearance (Right, 13 weeks, x4,000). Myofibrils are highly disorganized and organelles accumulate in the center of fibers (top).

Copyright

This image is from Buj-Bello A, Proc Natl Acad Sci U S A 2002 Nov 12;99(23):15060-5. Copyright 2002 National Academy of Sciences, U.S.A. J:81791

Associated Alleles

Symbol	Name
Mtm1^tm1.1Jman	X-linked myotubular myopathy gene 1; targeted mutation 1.1, Jean-Louis Mandel

Associated Genotypes

Allelic Composition	Genetic Background
Mtm1^tm1.1Jman/Y	involves: 129T1/Sv * C57BL/6