ZFIN ID: ZDB-PUB-180131-10
A frameshift mutation in the gene encoding LDLR adaptor protein Ldlrap1a in zebrafish
DeLaurier, A., Wiggins, K., VanPelt, K.
Date: 2018
Source: ZebraShare : (Unpublished)
Registered Authors: DeLaurier, April
Keywords: none
MeSH Terms: none
PubMed: none
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ABSTRACT
Previously, linkage mapping for an unknown allele with craniofacial malformations including joint fusions and ectopic joints was mapped to a region of chromosome 19 near the gene low density lipoprotein receptor adaptor protein 1 (ldlrap1a). Ldlrap1a interacts with the Low density lipoprotein receptor on cells and is involved in endocytosis of lipids. Mutations in LDLRAP1 in humans are associated with hypercholesteremia, and the LDLR/LDLRAP1 complex may also have a function in chondrocytes. Sanger sequencing of ldlrap1a in unmapped mutants did not reveal a conclusive lesion in the gene. CRISPR mutatgenesis was used to generate a frameshift mutation in exon 2 of ldlrap1a in zebrafish. Analysis of F3 mutants from an incross of heterozygous parents did not reveal any defects in the craniofacial skeleton suggesting ldlrap1a is not involved in craniofacial development, and the affected gene in the unmapped mutant is not ldlrap1a. The ldlrap1a mutant line may be of future use to labs interested in studying clearance of lipids from blood by the LDLR/LDLRAP1 complex.
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