C57BL/6JCya-Fam161aem1flox/Cya
Common Name:
Fam161a-flox
Product ID:
S-CKO-15790
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Fam161a-flox
Strain ID
CKOCMP-73873-Fam161a-B6J-VA
Gene Name
Product ID
S-CKO-15790
Gene Alias
4930430E16Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Fam161aem1flox/Cya mice (Catalog S-CKO-15790) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000238880
NCBI RefSeq
NM_028672
Target Region
Exon 3
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Fam161a, a gene of unknown initial function, encodes a centrosomal-ciliary protein. It is essential for the structure of the photoreceptor connecting cilium (CC) [1]. It binds directly to microtubules, increases the acetylation of α -tubulin, and is part of microtubule -organizing centers, associating with the intracellular microtubule network. Its C -terminal UPF0564 domain mediates microtubule association and interactions with ciliopathy -associated proteins [1].
In Fam161a -deficient mice, visual acuity and electroretinographic responses gradually decrease, and the whole retina thins as shown by optical coherence tomography. Photoreceptor outer segment disks are disorganized, and molecular degenerative markers appear early. These phenotypes indicate that Fam161a deficiency affects retinal function and causes retinal degeneration [3]. Gene augmentation therapy in these knockout mice using an adeno -associated virus encoding the longer mFam161a transcript shows significant structural and functional rescue of photoreceptors [4]. Fine -tuning the gene augmentation therapy, such as using the weak FCBR1 -F0.4 promoter and both human isoforms, enables precise Fam161a expression in the CC and enhances retinal function [2].
In conclusion, Fam161a is crucial for the structure and function of photoreceptor connecting cilia, mainly through its role in microtubule -based cellular processes in the retina. The study of Fam161a knockout mouse models has significantly contributed to understanding its role in retinal degeneration and developing gene -based therapies for retinitis pigmentosa -type 28 caused by bi -allelic null mutations in Fam161a [1,2,3,4].
References:
1. Zach, Frank, Stöhr, Heidi. . FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa. In Advances in experimental medicine and biology, 801, 185-90. doi:10.1007/978-1-4614-3209-8_24. https://pubmed.ncbi.nlm.nih.gov/24664697/
2. Arsenijevic, Yvan, Chang, Ning, Mercey, Olivier, Hamel, Virginie, Kostic, Corinne. 2024. Fine-tuning FAM161A gene augmentation therapy to restore retinal function. In EMBO molecular medicine, 16, 805-822. doi:10.1038/s44321-024-00053-x. https://pubmed.ncbi.nlm.nih.gov/38504136/
3. Beryozkin, Avigail, Matsevich, Chen, Obolensky, Alexey, Banin, Eyal, Sharon, Dror. 2021. A new mouse model for retinal degeneration due to Fam161a deficiency. In Scientific reports, 11, 2030. doi:10.1038/s41598-021-81414-1. https://pubmed.ncbi.nlm.nih.gov/33479377/
4. Matsevich, Chen, Gopalakrishnan, Prakadeeswari, Chang, Ning, Arsenijevic, Yvan, Banin, Eyal. 2023. Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa. In Molecular therapy : the journal of the American Society of Gene Therapy, 31, 2948-2961. doi:10.1016/j.ymthe.2023.08.011. https://pubmed.ncbi.nlm.nih.gov/37580905/
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