Identity: Transcription activator-like effector nuclease (TALEN) edit and homology dependent repair in Yorkshire breed porcine fetal fibroblasts to introduce a C>A base substitution at base pair 121,244,982 that generates a BglII restriction enzyme site used to genotype progeny from gene edited founders, a CG>TC base substitution at base pairs 121,244,988-121,244,989 that creates a coding sequence change from arginine to serine at amino acid 638 of the swine RBM20 protein, and a synonymous AG>TC base substitution at base pairs 121,244,991-121,244,992.
HEALTH CLAIM SECTION
Claim: Loss of RBM20 gene function as a result of this gene edit in the Yorkshire breed of swine produces symptoms consistent with the criteria for diagnosis of familial dilated cardiomyopathy disease in humans.
CONTRAINDICATIONS SECTION
Limitations: This is a model of progressive disease. Some of the disease symptoms associated with familial dilated cardiomyopathy disease in humans take time to develop, and like the human disease, are variable in presentation from animal to animal.
INDICATIONS & USAGE SECTION
Product Use: Model animals and/or materials derived from these animals are intended for purchase only under license agreement with Recombinetics, Inc., and solely for use in connection with the specific licensed biomedical research.
INDICATIONS & USAGE SECTION
Conditions of Use: This model animal and any products derived from it are for biomedical research purposes only and not for use in humans. This is an investigational animal. Edible products of investigational animals are not to be used for food unless authorization has been granted by the U.S. Food and Drug Administration or by the U.S. Department of Agriculture.
WARNINGS AND PRECAUTIONS SECTION
WARNINGS & PRECAUTIONS: Caution. This intentionally genetically altered animal and any products derived from it are for biomedical research purposes only and are not for use in humans or as human or animal food. YorkaPig-HF-RBM20 animals are not for resale. No reproduction, distribution, transportation, or other third party transfer is allowed by the purchaser unless specifically agreed to in writing by Recombinetics, Inc. YorkaPig-HF-RBM20 animals, or any materials derived from the YorkaPig-HF-RBM20 animals, are not intended to enter the human or animal food supply. YorkaPig-HF-RBM20 animals shall be euthanized in accordance with all applicable regulatory or industry standards, and all animal remains must be disposed of by incineration. Purchaser must maintain detailed records accounting for the location of all YorkaPig-HF-RBM20 animals, and all materials derived from the YorkaPig-HF-RBM20 animals, from the time the animals are delivered to Purchaser through disposition by incineration. Final disposition notification must be made to Recombinetics, Inc.
RBM20 BglII restriction fragment length polymorphism (RFLP) Positive for one or two copies of RBM20-R636S
SUS SCROFA G.(NC_010456.5)121244982C>A + 121244988-121244989CG>TC + 121244991-121244992AG>TC ALTERATION TO EXON 9 OF RBM20 GENE IN YORKSHIRE BREED LARGE WHITE SWINE