Strain Data Sheet

RBRC-GSC0242

Strain Information

Image
BRC No.RBRC-GSC0242
TypeChemically-induced Mutation
SpeciesMus musculus
Strain nameB6(D2)-Slc2a1<Rgsc200>
Former Common nameM100200, Glut1<Rgsc200>/+
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain developmentRIKEN-ENU mutagenesis program.C57BL/6Jjcl males, designated as the G0 generation, were treated with N-ethyl-N-nitrosourea (ENU) via intraperitoneal (i.p.) injection and subsequently mated with DBA/2Jjcl femalesTheir offspring, designated as the G1 generation, were screened, and the founder of the strain was isolated from the G1 generation. The mutated gene, Slc2a1, was identified through a genetic analysis. The mutant strain was established through backcrossing to C57BL/6Jjcl for more than 10 generations. During the backcrossing process, heterozygous females were mated with C57BL/6Jjcl males to eliminate the mutagenized Y chromosome inherited from the G1 male. Mating and nursing behaviors exhibited by heterozygotes have not been determined. The mutant mice were generated using in vitro fertilization (IVF) followed by embryo transfer. Embryonic lethal; immobility.
Strain descriptionThis strain was generated through an ENU-mutagenesis program at the RIKEN Genome Research Center (Masuya et al., 2004) and carries a missense mutation in the Slc2a1 gene (Furuse et al., 2019). The mutation results in a serine-to-proline substitution in the eighth transmembrane domain of the SLC2A1 protein. SLC2A1 is the only glucose transporter expressed in the blood-brain barrier, and its functional deficiency leads to Glucose Transporter 1 Deficiency Syndrome (GLUT1DS; OMIM #606777). This strain exhibits several phenotypes commonly observed in GLUT1DS patients, including learning deficiencies, convulsive seizures, epileptic electroencephalogram patterns, reduced and cerebrospinal fluid glucose levels. In addition, they exhibit disrupted sleep-wake cycles and abnormal glucose kinetics in the brain. This strain serves as a valuable model for studying GLUT1DS.
Colony maintenance
References
Development and implementation of a database system to manage a large-scale mouse ENU-mutagenesis program.
Hiroshi Masuya, Yuji Nakai, Hiromi Motegi, Norio Niinaya, Yuichiro Kida, Yoshiharu Kaneko, Haruhiko Aritake, Nobuaki Suzuki, Jun Ishii, Koji Koorikawa, Tomohiro Suzuki, Maki Inoue, Kimio Kobayashi, Hideaki Toki, Yumiko Wada, Hideki Kaneda, Junko Ishijima, K Ryo Takahashi, Osamu Minowa, Tetsuo Noda, Shigeharu Wakana, Yoichi Gondo, Toshihiko Shiroishi
Mamm. Genome, 15(5):404-11 (2004). 15170230

A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
Tamio Furuse, Hiroshi Mizuma, Yuuki Hirose, Tomoko Kushida, Ikuko Yamada, Ikuo Miura, Hiroshi Masuya, Hiromasa Funato, Masashi Yanagisawa, Hirotaka Onoe, Shigeharu Wakana
Dis. Model Mech., 12(9): dmm038828 (2019). 31399478

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Slc2a1
MGI:95755		solute carrier family 2 (facilitated glucose transporter), member 14Slc2a1<Rgsc200> RIKEN Genomic Sciences Center (GSC), 200
  • childhood onset GLUT1 deficiency syndrome 2(MedGEN)

  • dystonia 9(MedGEN)

  • encephalopathy due to GLUT1 deficiency(MedGEN)
    • more 3 Diseases
  • epilepsy, idiopathic generalized, susceptibility to, 12(MedGEN)

  • GLUT1 deficiency syndrome(DisGeNET)

  • hereditary cryohydrocytosis with reduced stomatin(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • ataxia(MP:0001393)

  • decreased body weight(MP:0001262)

  • impaired passive avoidance behavior(MP:0004000)

  • no spontaneous movement(MP:0001404)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationMouse Models for Human Disease
    Specific Term and ConditionsThe RECIPIENT of for-profit institution must contact the DEPOSITOR separately.
    The RECIPIENT of not for-profit institution must contact and discuss in good faith with the DEPOSITOR regarding inventorship, ownership, patent filing and licese fees and others, prior to filing a patent or make a contract with license fees with a third party for invention or products obtained from research results by using the BIOLOGICAL RESOURCES.
    DepositorRIKEN GSC (RIKEN GSC)
    Strain Statusan icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved sperm (2 to 4 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Mouse of the Month Nov 2019

    BRC mice in Publications

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