Phenotype Image Detail

Image

Caption

Ultrastructural abnormalities in longitudinal sections of soleus myofibers from 6 week (A and B) and 6 month (C and D) old Ryr1^tm1.1Dhm/Ryr1⁺ mice. (A) A full-width section of a type 2 fiber showing myofibrillar splitting (arrows) and intermingling (bracket). The boxed area shows a focal loss of myofibrillar organization over several sarcomeres. (B) A transitional area between a normally structured area and a compacted core area in a type 1 fiber. The core lesion shows Z-line streaming and focal loss of a Z-disk (arrowheads). Note that intermyofibrillar sapces are reduced and mitochondria and sarcoplasmic reticulum (SR) are absent from this area (upper left diagonal), which is sharply delineated from a contiguous, normally structured region (lower right diagonal). Mitochondria in the unaffected area (asterisks) have a normal disposition and appearance. (C) A type 2 fiber shows a well-demarcated lesion with gradual loss of sarcomeric organization from a structured (upper right) to an unstructured area (center). Double-headed arrows show the variability of sarcomeric lengths in the core area. The arrowheads show how loss of sacromeric register is transmitted to adjacent regions. (D) The central part of a structured core in a type 1 fiber. Z-lines (arrows) are wavy and disintegrating, intermyofibrillar space is reduced, and mitochondria and SR are absent. (Scale bars, 5 um (A), 2 um (B and C) and 1 um D.)

Copyright

This image is from Zvaritch E, Proc Natl Acad Sci U S A 2009 Dec 3;():. Copyright 2009 National Academy of Sciences, U.S.A. J:155825

Associated Alleles

Symbol	Name
Ryr1^tm1.1Dhm	ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, David H MacLennan

Associated Genotypes

Allelic Composition	Genetic Background
Ryr1^tm1.1Dhm/Ryr1^+	involves: 129S2/SvPasCrl * 129S6/SvEvTac