IMPC phenotypes (gene matching)
- hyperactivity / IMPC
B6.CB-Slc38a8em1Lmon/Cnbc
| Status | Available to order |
| EMMA ID | EM:15349 |
| Citation information | RRID:IMSR_EM:15349 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.CB-Slc38a8em1Lmon/Cnbc |
| Alternative name | B6.CB-Slc38a8emA8578/Lmon |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Slc38a8em1Lmon |
| Gene/Transgene symbol | Slc38a8 |
Information from provider
| Provider | Lluis Montoliu |
| Provider affiliation | Molecular and Cellular Biology, CNB-CSIC |
| Genetic information | Mouse mutation in the Slc38a8 gene generated using CRISPR/Cas9 genome editing tools resulting in the p.196Pro* mutation in the corresponding encoded protein (equivalent to p.Pro199* mutation in the SLC38A8 human gene), thereby truncating the carboxy-end of the protein. This mutation in the Slc28a8 mouse gene is most similar to the p.Gln200* mutation in the SLC38A8 human protein, resulting in the FHONDA (foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis) syndrome, a new recessive rare inherited disorder associated with visual impairments similar to those found in albinism. Hence, this mouse mutant is a suitable animal model to investigate the FHONDA syndrome. |
| Phenotypic information | Homozygous:Externally, homozygous mutant mice are pigmented black (nonagouti), indistinguishable of C57BL/6J wild-type, with pigmentation levels in skin and eyes comparable to wild-type animals. Internally, at the level of the visual system, these mice show some empty areas in the retinal pigment epithelium (RPE) cells under light microscopy. Under electron microscopy, these RPE areas appeared as intracellular vacuoles. They also show a significant reduction of ipsilateral retinal ganglion cell fibers departing from the optic chiasm, as measured by unilateral anterograde labeling with DiI in +18.5 dpc embryos and anterograde tracing experiment in adult animals (2-3 months old) using the neuronal tracer CTB associated with AlexaFluor 555 or AlexaFluor 647 fluorochromes into each eye, respectively, to visualize the entire 3D retinal projections for both eyes. ERG analyses under scotopic conditions, to evaluate retinal function, show significantly smaller responses elicited by the higher intensity flashes in homozygous mutant mice. Their visual acuity, assessed with the optomotor test, exhibited a statistically significant reduction in homozygous mutant mice, compared to wild-type animals.Heterozygous:Externally, heterozygous mutant mice are pigmented black (nonagouti), indistinguishable of C57BL/6J wild-type, with pigmentation levels in skin and eyes comparable to wild-type animals. Internally, at the level of the visual system, these mice show some empty areas in the RPE cells under light microscopy (fewer than with homozygous mutant mice). Under electron microscopy, these RPE areas appeared as intracellular vacuoles. Heterozygous animals do not show a reduction of ipsilateral retinal ganglion cell fibers departing from the optic chiasm. ERG analyses under scotopic conditions, showed significant differences with homozygous mutant mice. Their visual acuity, assessed with the optomotor test, exhibited a statistically significant reduction in heterozygous mutant mice, compared to wild-type animals. |
| Breeding history | The mouse mutation was originally obtained in a hybrid background B6CBAF2. Thereafter, the selected founder (A8578) was subsequently backcrossed five times to C57BL/6J directly purchased to Charles River. Therefore, the current genetic background of the mouse line is >98.4% C57BL/6J. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Literature references
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.;Guardia Ana, Fernández Almudena, Seruggia Davide, Chotard Virginie, Sánchez-Castillo Carla, Kutsyr Oksana, Sánchez-Sáez Xavier, Zurita Esther, Cantero Marta, Rebsam Alexandra, Cuenca Nicolás, Montoliu Lluís, ;2023;Investigative ophthalmology & visual science;64;32; 37862028