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C57BL/6JCya-Abca13em1/Cya
Common Name:
Abca13-KO
Product ID:
S-KO-18233
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Abca13-KO
Strain ID
KOCMP-268379-Abca13-B6J-VA
Gene Name
Abca13
Product ID
S-KO-18233
Gene Alias
9830132L24; A930002G16Rik
Background
C57BL/6JCya
NCBI ID
268379
Modification
Conventional knockout
Chromosome
11
Phenotype
MGI:2388707
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Abca13em1/Cya mice (Catalog S-KO-18233) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000042740
NCBI RefSeq
NM_178259
Target Region
Exon 3
Size of Effective Region
~1.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Abca13, an ATP-binding cassette subfamily A member, is predicted to be the largest ABC protein, consisting of 5058 amino acids with a long N-terminal region. It is involved in cholesterol trafficking, specifically accelerating cholesterol internalization by endocytic retrograde transport in neurons [1].

In Abca13 KO mice, deficits of prepulse inhibition were observed. Also, vesicular cholesterol accumulation and synaptic vesicle endocytosis were impaired in primary cultures of Abca13 KO cortical neurons, suggesting its importance in these neuronal functions [1]. Mutations in the ABCA13 gene have been associated with an increased susceptibility to psychiatric disorders such as schizophrenia, bipolar disorder, major depression, and autism spectrum disorder. These mutations can disrupt the protein's subcellular localization and impair cholesterol trafficking [1,2,4,6,7].

In addition, ABCA13 mRNA expression was significantly related to shorter overall survival in metastatic ovarian serous carcinoma, indicating its potential as a marker of poor outcome [3]. Moreover, an ABCA13-based ELISA showed good discriminatory power for detecting focal pathological forms of subclinical bovine paratuberculosis [5].

In conclusion, Abca13 is crucial for cholesterol trafficking in neurons. The study of Abca13 KO mouse models has revealed its significance in the pathophysiology of psychiatric disorders. Additionally, it shows potential as a biomarker in metastatic ovarian serous carcinoma and for detecting subclinical bovine paratuberculosis.

References:
1. Nakato, Mitsuhiro, Shiranaga, Naoko, Tomioka, Maiko, Kioka, Noriyuki, Ueda, Kazumitsu. 2020. ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking. In The Journal of biological chemistry, 296, 100166. doi:10.1074/jbc.RA120.015997. https://pubmed.ncbi.nlm.nih.gov/33478937/
2. Gerik-Celebi, Hamide Betul, Unsel-Bolat, Gul, Bolat, Hilmi. 2023. Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders. In Molecular syndromology, 15, 22-29. doi:10.1159/000534123. https://pubmed.ncbi.nlm.nih.gov/38357255/
3. Nymoen, Dag Andre, Holth, Arild, Hetland Falkenthal, Thea E, Tropé, Claes G, Davidson, Ben. 2015. CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma. In Molecular cancer, 14, 44. doi:10.1186/s12943-015-0317-1. https://pubmed.ncbi.nlm.nih.gov/25889687/
4. Chen, Jianhua, Khan, Raja Amjad Waheed, Wang, Meng, Xu, Yifeng, Shi, Yongyong. 2016. Association between the variability of the ABCA13 gene and the risk of major depressive disorder and schizophrenia in the Han Chinese population. In The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 18, 550-556. doi:10.1080/15622975.2016.1245442. https://pubmed.ncbi.nlm.nih.gov/27712136/
5. Blanco-Vázquez, Cristina, Alonso-Hearn, Marta, Iglesias, Natalia, Iglesias, Tania, Casais, Rosa. 2022. Use of ATP-Binding Cassette Subfamily A Member 13 (ABCA13) for Sensitive Detection of Focal Pathological Forms of Subclinical Bovine Paratuberculosis. In Frontiers in veterinary science, 9, 816135. doi:10.3389/fvets.2022.816135. https://pubmed.ncbi.nlm.nih.gov/35359676/
6. Chen, Chia-Hsiang, Huang, Yu-Shu, Fang, Ting-Hsuan. 2021. Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder. In International journal of molecular sciences, 22, . doi:10.3390/ijms222413189. https://pubmed.ncbi.nlm.nih.gov/34947986/
7. Iritani, Shuji, Torii, Youta, Habuchi, Chikako, Isoda, Masaki, Ozaki, Norio. 2018. The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion. In International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 71, 130-139. doi:10.1016/j.ijdevneu.2018.09.002. https://pubmed.ncbi.nlm.nih.gov/30201574/
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
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