Strain Data Sheet

RBRC00235

Strain Information

Image
BRC No.RBRC00235
TypeTargeted Mutation CongenicCartagena
SpeciesMus musculus
Strain nameB6.129X1-Chrng<tm1Mtak>/10Rbrc
Former Common nameC57BL/6-TgH(AchR-gamma/10)
H-2 Haplotype
ES Cell lineRW4 [129X1/SvJ]
Background strainC57BL/6JJcl
Appearanceblack
Strain developmentDeveloped by Dr. Masazumi Takahashi. This strain has been introduced into C57BL/6 genetic background by successive backcrossing for more than 10 generations in RIKEN Tsukuba Institute.
Strain descriptionThe acetylcholine receptors are known to have important roles in neuro-muscular functions. The gamma subunit are expressed in embryonic stages and the epsilon subunit are expressed postnatal stages.The acetylcholine receptors gamma and epsilon subunits have been disrupted by homologous recombination to study the functions of these genes and switching mechanism of gamma to epsilon subunits. The gamma subunit deficient homozygotes died after two days post delivery, suffering from inability of motor function of the limbs and drinking milk. The analysis on the neuro-muscular junctions showed the structural and electrophysiological abnormalities.
Colony maintenanceBackcrossing to C57BL/6. Or sister-brother mating of heterozygotes. Breeding performance is good.
References
Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit.
Missias A C, Mudd J, Cunningham J M, Steinbach J H, Merlie J P, Sanes J R
Development, 124, 5075-5086 (1997). 9362465

Mitochondrial stress protein recognition of inactivated dehydrogenases during mammalian cell death.
Bruschi S A, Lindsay J G, Crabb J W
Proc. Natl. Acad. Sci. USA, 95, 13413-13418 (1998). 9811814

Differential regulation of muscle acetylcholine receptor gamma- and epsilon-subunit mRNAs.
Witzemann V, Barg B, Nishikawa Y, Sakmann B, Numa S
FEBS Lett., 223, 104-112 (1987). 3666131

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.
Takahashi M, Kubo T, Mizoguchi A, Carlson C G, Endo K, Ohnishi K
EMBO Rep., 3, 674-681 (2002). 12101101

Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice.
Witzemann V, Schwarz H, Koenen M, Berberich C, Villarroel A, Wernig A, Brenner H R, Sakmann B
Proc. Natl. Acad. Sci. USA, 93, 13286-13291 (1996). 8917583

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Chrngcholinergic receptor, nicotinic, gamma polypeptide1Chrngtargeted mutation 1, Masazumi Takahashi
  • autosomal recessive multiple pterygium syndrome(MedGEN)

  • lethal multiple pterygium syndrome(MedGEN)
  • neoneomycin resistance gene (E. coli)1herpes simplex virus thymidine kinase promoter (HSV tk promoter)
  • autosomal recessive multiple pterygium syndrome(MedGEN)

  • lethal multiple pterygium syndrome(MedGEN)
  • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal breathing pattern(MP:0001951)

  • abnormal diaphragm morphology(MP:0002279)

  • abnormal miniature endplate potential(MP:0004835)

  • abnormal muscle physiology(MP:0002106)

  • abnormal neuromuscular synapse morphology(MP:0001053)
  • more 8 phenotypes
  • abnormal skeletal muscle fiber morphology(MP:0003084)

  • abnormal suckling behavior(MP:0001436)

  • cyanosis(MP:0001575)

  • dehydration(MP:0001429)

  • hindlimb paralysis(MP:0000755)

  • increased variability of skeletal muscle fiber size(MP:0009403)

  • perinatal lethality, incomplete penetrance(MP:0011090)

  • postnatal lethality, complete penetrance(MP:0011085)
  • Detailed phenotype data

    Ordering Information

    Donor DNAherpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli neo, mouse muscle type nicotinic acetylcholine receptor gamma subunit
    Research applicationNeurobiology Research
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR. In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested. The RECIPIENT agrees to use the BIOLOGICAL RESOURCE only for publication of research papers.
    The RECIPIENT agrees to use this BIOLOGICAL RESOURCE as a collaboration with the DEPOSITOR.
    The RECIPIENT must contact the DEPOSITOR in the case of application for any patents or commercial use based on the results from the use of the BIOLOGICAL RESOURCE.
    DepositorMasazumi Takahashi (Centre National de Genotypage)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Approval form (Japanese / English)
    2. Order form (Japanese / English)
    3. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    4. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert RW, Olivera BM, McArdle JJ, Green WN, Lin W.
    Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.
    Development 135(11) 1957-67(2008) 18434415