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C57BL/6JCya-Nhlrc1em1flox/Cya
Common Name:
Nhlrc1-flox
Product ID:
S-CKO-00431
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nhlrc1-flox
Strain ID
CKOCMP-105193-Nhlrc1-B6J-VA
Gene Name
Nhlrc1
Product ID
S-CKO-00431
Gene Alias
B230309E09Rik; EPM2B
Background
C57BL/6JCya
NCBI ID
105193
Modification
Conditional knockout
Chromosome
13
Phenotype
MGI:2145264
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nhlrc1em1flox/Cya mice (Catalog S-CKO-00431) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000052747
NCBI RefSeq
NM_175340
Target Region
Exon 1
Size of Effective Region
~4.3 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Nhlrc1, which encodes an ubiquitin ligase, is associated with Lafora disease. It interacts with laforin encoded by EPM2A, and together they are thought to regulate critical neuronal functions [6]. Mutations in Nhlrc1 can lead to abnormal accumulation of polyglucosan bodies within neurons, resulting in progressive neurological signs, mainly myoclonic epilepsy [1,4,5,6,7].

In humans, the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in Nhlrc1 is a common cause of Lafora disease in Turkey, and patients with Nhlrc1 mutations have a slower rate of disease progression compared to those with EPM2A mutations [5,7]. In dogs, a dodecamer expansion in Nhlrc1 has been identified in multiple breeds such as miniature wire-haired Dachshunds, Basset Hound, Beagle, Chihuahua, Pembroke Welsh Corgi, and Newfoundland dog, all diagnosed with Lafora disease [1,2,3,4].

In conclusion, Nhlrc1 is crucial in maintaining normal neuronal functions. Genetic studies in both humans and dogs with Lafora disease, which can be seen as in vivo research models, have revealed its role in this progressive neurological disorder. Understanding Nhlrc1's function provides insights into the mechanisms of Lafora disease, potentially guiding future treatment strategies.

References:
1. Mari, L, Comero, G, Mueller, E, Kuehnlein, P, Kehl, A. 2021. NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease. In The Journal of small animal practice, 62, 1030-1032. doi:10.1111/jsap.13396. https://pubmed.ncbi.nlm.nih.gov/34263924/
2. Kehl, Alexandra, Cizinauskas, Sigitas, Langbein-Detsch, Ines, Mueller, Elisabeth. 2019. NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease. In Animal genetics, 50, 413-414. doi:10.1111/age.12795. https://pubmed.ncbi.nlm.nih.gov/31172540/
3. Barrientos, Laura, Maiolini, Arianna, Häni, Annakatrin, Jagannathan, Vidhya, Leeb, Tosso. 2018. NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. In Animal genetics, 50, 118-119. doi:10.1111/age.12756. https://pubmed.ncbi.nlm.nih.gov/30525203/
4. Hajek, I, Kettner, F, Simerdova, V, Minassian, B A, Palus, V. 2016. NHLRC1 repeat expansion in two beagles with Lafora disease. In The Journal of small animal practice, 57, 650-652. doi:10.1111/jsap.12593. https://pubmed.ncbi.nlm.nih.gov/27747878/
5. Haryanyan, Garen, Ozdemir, Ozkan, Tutkavul, Kemal, Ugur Iseri, Sibel A, Bebek, Nerses. 2021. The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. In Journal of human genetics, 66, 1145-1151. doi:10.1038/s10038-021-00944-8. https://pubmed.ncbi.nlm.nih.gov/34117373/
6. Singh, Shweta, Ganesh, Subramaniam. . Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. In Human mutation, 30, 715-23. doi:10.1002/humu.20954. https://pubmed.ncbi.nlm.nih.gov/19267391/
7. Singh, S, Sethi, I, Francheschetti, S, Delgado-Escueta, A V, Ganesh, S. . Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. In Journal of medical genetics, 43, e48. doi:. https://pubmed.ncbi.nlm.nih.gov/16950819/
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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