RGD Reference Report - Low-Density Lipoprotein Receptor-Related Protein 5-Deficient Rats Have Reduced Bone Mass and Abnormal Development of the Retinal Vasculature. - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Low-Density Lipoprotein Receptor-Related Protein 5-Deficient Rats Have Reduced Bone Mass and Abnormal Development of the Retinal Vasculature.

Authors: Ubels, John L  Diegel, Cassandra R  Foxa, Gabrielle E  Ethen, Nicole J  Lensing, Jonathan N  Madaj, Zachary B  Williams, Bart O 
Citation: Ubels JL, etal., CRISPR J. 2020 Aug;3(4):284-298. doi: 10.1089/crispr.2020.0009.
RGD ID: 40902996
Pubmed: PMID:32833527   (View Abstract at PubMed)
DOI: DOI:10.1089/crispr.2020.0009   (Journal Full-text)

Humans carrying homozygous loss-of-function mutations in the Wnt co-receptor, low-density lipoprotein receptor-related protein 5 (LRP5), develop osteoporosis and a defective retinal vasculature known as familial exudative vitreoretinopathy (FEVR) due to disruption of the Wnt signaling pathway. The purpose of this study was to use CRISPR-Cas9-mediated gene editing to create strains of Lrp5-deficient rats and to determine whether knockout of Lrp5 resulted in phenotypes that model the bone and retina pathology in LRP5-deficient humans. Knockout of Lrp5 in rats produced low bone mass, decreased bone mineral density, and decreased bone size. The superficial retinal vasculature of Lrp5-deficient rats was sparse and disorganized, with extensive exudates and decreases in vascularized area, vessel length, and branch point density. This study showed that Lrp5 could be predictably knocked out in rats using CRISPR-Cas9, causing the expression of bone and retinal phenotypes that will be useful for studying the role of Wnt signaling in bone and retina development and for research on the treatment of osteoporosis and FEVR.



Gene Ontology Annotations    

Biological Process

Phenotype Annotations    
Objects Annotated

Genes (Rattus norvegicus)
Lrp5  (LDL receptor related protein 5)
Lrp5em1Vari  (LDL receptor related protein 5;CRISPR/Cas9 induced mutant 1, Vari)
Lrp5em2Vari  (LDL receptor related protein 5; CRISPR/Cas9 induced mutant 2, Vari)
Lrp5em3Vari  (LDL receptor related protein 5; CRISPR/Cas9 induced mutant 3, Vari)


Additional Information