Strain Data Sheet

RBRC09909

Strain Information

Image
BRC No.RBRC09909
TypeCRISPR/Cas9Cartagena
SpeciesMus musculus
Strain nameC57BL/6N-Nalcn<em1Iiis>
Former Common nameNalcn<Drl>
H-2 Haplotype
ES Cell line
Background strainC57BL/6NJcl
Appearance
Strain developmentDeveloped by Hiromasa Funato and Masashi Yanagisawa, University of Tsukuba. C57BL/6N background. The EEG/EMG-based dominant screening of ENU-mutagenized mice yielded a mutant pedigree with a REMS abnormality, which we termed Dreamless (Drl). The founder of the pedigree showed a short REMS episode duration. Whole-exome sequencing combined with direct sequencing of candidate genes identified a heterozygous missense mutation in the Nalcn gene (chr14: 123515403). We then confirmed the causal relationship of the Nalcn gene mutation to the REMS phenotype by introducing the same nucleotide substitution in wild-type mice using the CRISPR/Cas9 system. CRISPR NalcnDrl/+ mice showed a short REMS episode duration, similar to the original Dreamless pedigree.
Strain descriptionMutant mice harboring Dreamless mutation(N315K)introduced by the CRISPR/Cas9 system. The EEG/EMG-based dominant screening of ENU-mutagenized mice yielded a mutant pedigree with a REMS abnormality, Dreamless (Drl). The founder of the pedigree showed a short REMS episode duration. Whole-exome sequencing combined with direct sequencing of candidate genes identified a heterozygous missense mutation in the Nalcn gene (chr14: 123515403). The causal relationship of the Nalcn gene mutation to the REMS phenotype was further confirmed by introducing the same nucleotide substitution in wild-type mice using the CRISPR/Cas9 system. RBRC09909 showed a short REMS episode duration, similar to the original Dreamless pedigree.
Colony maintenanceHeterozygote x Wild-type [or Crossing to C57BL/6NJcl]
References
Forward-genetics analysis of sleep in randomly mutagenized mice.
Funato H, Miyoshi C, Fujiyama T, Kanda T, Sato M, Wang Z, Ma J, Nakane S, Tomita J, Ikkyu A, Kakizaki M, Hotta-Hirashima N, Kanno S, Komiya H, Asano F, Honda T, Kim S J, Harano K, Muramoto H, Yonezawa T, Mizuno S, Miyazaki S, Connor L, Kumar V, Miura I, Suzuki T, Watanabe A, Abe M, Sugiyama F, Takahashi S, Sakimura K, Hayashi Y, Liu Q, Kume K, Wakana S, Takahashi J S, Yanagisawa M
Nature, 539, 378-383 (2016). 27806374

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Nalcn
MGI:2444306		sodium leak channel, non-selective14Nalcn<em1Iiis>
MGI:5806546		endonuclease-mediated mutation 1, Masashi Yanagisawa and Hiromasa Funato
  • congenital contractures of the limbs and face, hypotonia, and developmental delay(MedGEN)

  • hypotonia, infantile, with psychomotor retardation and characteristic facies 1(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal paradoxical sleep pattern(MP:0012288)
    • Detailed phenotype data

    Ordering Information

    Donor DNApX330-U6-Chimeric_BB-CBh-hSpCas9[human U6 promoter, S. pyogenes gRNA scaffold, human U6 terminator, CMV,chicken hybrid CMV enhancer/chicken beta-actin promoter (CBh), Synthetic DNA 3xFLAG, SV40 nuclear localization signal(NLS), Streptococcus pyogenes SpCas9 (human codon-optimized), bovine GH polyA signal, AAV2 inverted terminal repeat (ITR), f1 phage f1 origin, E. coli Ampicillin resistance gene (AmpR), E. coli pUC origin], mouse Nalcn genomic DNA (N315K mutation)
    Research application
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Nature, 539, 378-383 (2016).Prior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from　Dr. Masashi Yanagisawa. The availability of the BIOLOGICAL RESOURCE is limited to a RECIPIENT of a not-for profit institution for a not-for-profit research.
    DepositorDrs. Hiromasa Funato and Masashi Yanagisawa (University of Tsukuba)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: CRISPR/Cas9 genome edited bioresources (Japanese / English)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    BRC mice in Publications

    No Data