Phenotype Image Detail

Image

Caption

The disease phenotype of Ryr1^tm1.1Dhm/Ryr1⁺ mice presents clear signs of a congenital myopathy. (A) Ryr1^tm1.1Dhm/Ryr1⁺ (IT/+) and wild-type (WT) E20 littermates 15 minutes after delivery by C-section. Newborn mutant pups appear weak and cyanotic for an extended period following delivery whereas the WT littermate is pink and respires normally. (B-E) Examples of the variability of the disease phenotype in mutant mice. The mutant mice exhibit dorsal kyphosis and a varying degree of muscle weakness. (B) Severely affected 10 month old female. Note the abnormal, flattened posture and outstretched hind limbs that fail to lift the hindquarters. (C) Moderate disease phenotype in an 18 month old female. (D) A 16 month old male with severe hind limb paralysis. (E) A 12 month old male with advanced dorsal kyphosis and hind limb paresis.

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