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

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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