C57BL/6NTac-Sptlc1em1H/H
| Status | Available to order |
| EMMA ID | EM:14648 |
| Citation information | RRID:IMSR_EM:14648 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 | C57BL/6NTac-Sptlc1em1H/H |
| Alternative name | SPTLC1-S331F-EM1-B6N |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Sptlc1em1H |
| Gene/Transgene symbol | Sptlc1 |
Information from provider
| Provider | Mary Lyon Centre at MRC Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
| Phenotypic information | Homozygous:not knownHeterozygous:None reported |
| Breeding history | Co-isogenic on original background |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hereditary sensory and autonomic neuropathy type 1 / Orphanet_36386
- Juvenile amyotrophic lateral sclerosis / Orphanet_300605
IMPC phenotypes (gene matching)
Literature references
- Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model;Shunyi Ma , Museer A Lone , Hou Wang Lam , Qiang Zhang , Shuzhi Cheng , Shona Mackie , Emma Graham , Hanna Kedzior , Charalambos Demetriou , Nicole Ziak , Laura Andreoli , Simon Beggs , Stephanie Koch , Alex J Clark , David L Bennett , Thorsten Hornemann , Francesco Muntoni , Mary M Reilly , Haiyan Zhou;2026;Brain : a journal of neurology;149;2059–2071; 41124364
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