Phenotype Image Detail

Image

Caption

Developmental defects in Ryr1^tm1.1Dhm/Ryr1^tm1.1Dhm fetuses. Delayed ossification in Ryr1^tm1.1Dhm/Ryr1^tm1.1Dhm neonates. Bone (alizarin red) and cartilage (alcian blue) staining. The mutant neonates (B) exhibit a cervical kyphosis (marked with a "1") as opposed to the wild-type (A) lordosis; a delayed ossification in the neurocranuim (marked with "2"), hind limb heel bones (marked with "3"), and phalanges of the digits (marked with "4"). The deltoid tuberosity of the humerus (marked with "5") is properly formed. (C and D) Dorsal view of the skulls shown in A and B. (E and F) Gross lateral view of wild-type and mutant E15.5 fetuses. Arrows indicate a mild subcutaneous edema. (G-I) Delayed cardiac development. HE-stained sections. (G) Parasagittal section of a mutant neonate. T, tongue; H, heart; L, liver. Magnification x0.5. (H) Transverse section of the mutant neonate heart. RV, LV, RA and LA are right and left ventricles and atria, respectively. Magnification x2.5. (I) Enlarged view of the region in H denoted with a rectangle. Arrow indicates an atrial septal closure defect.

Copyright

This image is from Zvaritch E, Proc Natl Acad Sci U S A 2007 Nov 20;104(47):18537-42. Copyright 2007 National Academy of Sciences, U.S.A. J:127629

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^tm1.1Dhm	involves: 129S6/SvEvTac * 129X1/SvJ