C57BL/6JCya-Slc38a8em1/Cya
Common Name
Slc38a8-KO
Product ID
S-KO-06747
Backgroud
C57BL/6JCya
Strain ID
KOCMP-234788-Slc38a8-B6J-VA
When using this mouse strain in a publication, please cite “Slc38a8-KO Mouse (Catalog S-KO-06747) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Slc38a8-KO
Strain ID
KOCMP-234788-Slc38a8-B6J-VA
Gene Name
Product ID
S-KO-06747
Gene Alias
Gm587
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 8
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000036748
NCBI RefSeq
NM_001009950
Target Region
Exon 3~5
Size of Effective Region
~7.0 kb
Overview of Gene Research
Slc38a8, a solute carrier family 38 member 8, is a putative glutamine transporter. It facilitates glutamine influx, which converts to glutamate in the visual pathway [2]. Mutations in this gene are associated with FHONDA syndrome, a subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects without pigmentation leading to severe vision loss [2]. Mouse models, generated using CRISPR/Cas9 technology, have been crucial for studying Slc38a8. Slc38a8 mutant mice exhibit wild-type eye and coat pigmentation but show subcellular abnormalities in retinal pigment epithelium cells, reduction of ipsilateral retinal fibers, decreased electroretinography (ERG) response in scotopic conditions, and reduced visual acuity [1]. These phenotypes recapitulate the characteristics of FHONDA patients, indicating normal pigmentation and abnormal visual systems [1].
In addition, in vitro studies on retinal cell lines overexpressing SLC38A8 show that its overexpression influences retinal gene expression, light detection, visual perception, as well as glutamine and glutamate dynamics [2]. In vivo, Slc38a8-truncated gene mice display altered testicular morphology, degenerative changes in germinal epithelium, elevated liver enzyme, and enhanced scotopic responsiveness in electroretinogram [2].
In conclusion, Slc38a8 plays a vital role in retinal function and glutamine-glutamate metabolism. The Slc38a8-KO mouse models have significantly contributed to understanding the pathophysiology of FHONDA syndrome, providing insights into the role of Slc38a8 in the development of the visual pathway and associated diseases [1,2].
References:
1. Guardia, Ana, Fernández, Almudena, Seruggia, Davide, Cuenca, Nicolás, Montoliu, Lluís. . A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects. In Investigative ophthalmology & visual science, 64, 32. doi:10.1167/iovs.64.13.32. https://pubmed.ncbi.nlm.nih.gov/37862028/
2. Weiner, Chen, Hecht, Idan, Lindovsky, Jiri, Shomron, Noam, Pras, Eran. 2025. Characterisation of SLC38A8 and Its Role in Retinal Pathways and Disease. In Clinical & experimental ophthalmology, , . doi:10.1111/ceo.14504. https://pubmed.ncbi.nlm.nih.gov/39956648/
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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