C57BL/6JCya-Lrpap1em1flox/Cya
Common Name:
Lrpap1-flox
Product ID:
S-CKO-03430
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Lrpap1-flox
Strain ID
CKOCMP-16976-Lrpap1-B6J-VA
Gene Name
Product ID
S-CKO-03430
Gene Alias
HBP44; RAP
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lrpap1em1flox/Cya mice (Catalog S-CKO-03430) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030986
NCBI RefSeq
NM_013587
Target Region
Exon 2
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Lrpap1, also known as receptor associated protein (RAP), is an endoplasmic reticulum chaperone and inhibitor of LDL receptor related protein 1 (LRP1) and related receptors [2]. It is involved in ensuring proper formation of intermolecular disulfide bonds during biogenesis of low density lipoprotein (LDL) receptors and acts as an escort protein during trafficking through the endoplasmic reticulum and early Golgi compartment, preventing premature receptor-ligand interaction [4]. It has a general influence on lipid metabolism and is expressed in various tissues including the developing neural system, eye, ear, branchial arches, skin, and pronephric kidney [4].
Frameshift mutations in Lrpap1 lead to autosomal recessive high myopia in humans. In a zebrafish lrpap1 mutant line generated by Nuclease technology technology, the mutant showed a myopic phenotype with larger eye axial length-to-body length, myopic shift, and disordered scleral collagen fibers. RNA sequencing indicated activation of apoptosis signaling, likely due to elevated TGF-β protein expression. Treatment with a TGF-β agonist aggravated eyeball apoptosis in wild-type embryos, while a TGF-β inhibitor mitigated apoptosis in mutant embryos [1]. In a 9-year-old girl with a homozygous LRPAP1 pathogenic variant, myopic foveoschisis developed, evolving into a lamellar macular hole [3]. A homozygous LRPAP1 knockout human embryonic stem cell line was generated to study mechanisms of retinal degeneration underlying LRPAP1 deficiency [5]. Also, Lrpap1 deficiency may play a role in the development of myopia through TGF-β-induced apoptosis [1].
In conclusion, Lrpap1 plays a crucial role in maintaining normal eye development and refractive state, likely through its influence on apoptosis signaling mediated by TGF-β. The study of Lrpap1 knockout models in zebrafish and humans provides insights into the mechanisms underlying myopia development, especially in cases related to LRPAP1-associated myopia.
References:
1. Liu, Shanshan, Chen, Ting, Chen, Binghao, Lu, Xiaohe, Li, Jiali. 2022. Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish. In Cell communication and signaling : CCS, 20, 162. doi:10.1186/s12964-022-00970-9. https://pubmed.ncbi.nlm.nih.gov/36261846/
2. Reid, Kyle M, Brown, Guy C. 2023. LRPAP1 is released from activated microglia and inhibits microglial phagocytosis and amyloid beta aggregation. In Frontiers in immunology, 14, 1286474. doi:10.3389/fimmu.2023.1286474. https://pubmed.ncbi.nlm.nih.gov/38035103/
3. Almazyead, Mohammad, Alfakhri, Abdullmajeed S, Alsulaiman, Sulaiman M. 2024. Childhood Myopic Foveoschisis in LRPAP1-associated Myopia. In Middle East African journal of ophthalmology, 30, 182-184. doi:10.4103/meajo.meajo_151_23. https://pubmed.ncbi.nlm.nih.gov/39444998/
4. Neuhaus, Herbert, Gaul, Florian, Hollemann, Thomas. . lrpap1 as a specific marker of proximal pronephric kidney tubuli in Xenopus laevis embryos. In The International journal of developmental biology, 62, 319-324. doi:10.1387/ijdb.170295hn. https://pubmed.ncbi.nlm.nih.gov/29877571/
5. You, Jie, Xi, Hairui, Ma, Shuangping, Yang, Xian-Jie, Chen, Ling. 2021. Generation of a homozygous LRPAP1 knockout human embryonic stem cell line (FDCHDPe009-B) by Nuclease technology system. In Stem cell research, 56, 102516. doi:10.1016/j.scr.2021.102516. https://pubmed.ncbi.nlm.nih.gov/34469777/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen