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    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Lrp5Ratretina vasculature morphogenesis in camera-type eye  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Lrp5Ratabnormal femur morphology  IMP  RGD 
Lrp5em1VariRatabnormal femur morphology  IMP  RGD 
Lrp5em2VariRatabnormal femur morphology  IMP  RGD 
Lrp5em3VariRatabnormal femur morphology  IMP  RGD 
SD-Lrp5em1VariRatabnormal femur morphology  IMP  RGD 
SD-Lrp5em2VariRatabnormal femur morphology  IMP  RGD 
SD-Lrp5em3VariRatabnormal femur morphology  IMP  RGD 
Lrp5Ratabnormal retina blood vessel morphology  IMP  RGD 
Lrp5em1VariRatabnormal retina blood vessel morphology  IMP  RGD 
Lrp5em2VariRatabnormal retina blood vessel morphology  IMP  RGD 
Lrp5em3VariRatabnormal retina blood vessel morphology  IMP  RGD 
SD-Lrp5em1VariRatabnormal retina blood vessel morphology  IMP  RGD 
SD-Lrp5em2VariRatabnormal retina blood vessel morphology  IMP  RGD 
SD-Lrp5em3VariRatabnormal retina blood vessel morphology  IMP  RGD 
Lrp5Ratabnormal retina blood vessel pattern  IMP  RGD 
Lrp5em1VariRatabnormal retina blood vessel pattern  IMP  RGD 
Lrp5em2VariRatabnormal retina blood vessel pattern  IMP  RGD 
Lrp5em3VariRatabnormal retina blood vessel pattern  IMP  RGD 
SD-Lrp5em1VariRatabnormal retina blood vessel pattern  IMP  RGD 
SD-Lrp5em2VariRatabnormal retina blood vessel pattern  IMP  RGD 
SD-Lrp5em3VariRatabnormal retina blood vessel pattern  IMP  RGD 
Lrp5Ratdecreased bone trabecula number  IMP  RGD 
Lrp5em1VariRatdecreased bone trabecula number  IMP  RGD 
Lrp5em3VariRatdecreased bone trabecula number  IMP  RGD 
SD-Lrp5em1VariRatdecreased bone trabecula number  IMP  RGD 
SD-Lrp5em3VariRatdecreased bone trabecula number  IMP  RGD 
Lrp5Ratdecreased trabecular bone mass  IMP  RGD 
Lrp5em1VariRatdecreased trabecular bone mass  IMP  RGD 
Lrp5em2VariRatdecreased trabecular bone mass  IMP  RGD 
Lrp5em3VariRatdecreased trabecular bone mass  IMP  RGD 
SD-Lrp5em1VariRatdecreased trabecular bone mass  IMP  RGD 
SD-Lrp5em2VariRatdecreased trabecular bone mass  IMP  RGD 
SD-Lrp5em3VariRatdecreased trabecular bone mass  IMP  RGD 
Lrp5Ratdecreased trabecular bone thickness  IMP  RGD 
Lrp5em1VariRatdecreased trabecular bone thickness  IMP  RGD 
Lrp5em2VariRatdecreased trabecular bone thickness  IMP  RGD 
Lrp5em3VariRatdecreased trabecular bone thickness  IMP  RGD 
SD-Lrp5em1VariRatdecreased trabecular bone thickness  IMP  RGD 
SD-Lrp5em2VariRatdecreased trabecular bone thickness  IMP  RGD 
SD-Lrp5em3VariRatdecreased trabecular bone thickness  IMP  RGD 
Lrp5Ratincreased bone trabecular spacing sexual_dimorphism IMP  RGD 
Lrp5Ratincreased bone trabecular spacing  IMP  RGD 
Lrp5em1VariRatincreased bone trabecular spacing  IMP  RGD 
Lrp5em2VariRatincreased bone trabecular spacing sexual_dimorphism IMP  RGD 
Lrp5em3VariRatincreased bone trabecular spacing sexual_dimorphism IMP  RGD 
SD-Lrp5em1VariRatincreased bone trabecular spacing  IMP  RGD 
SD-Lrp5em2VariRatincreased bone trabecular spacing sexual_dimorphism IMP  RGD 
SD-Lrp5em3VariRatincreased bone trabecular spacing sexual_dimorphism IMP  RGD 
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