Strain Data Sheet

RBRC00238

Strain Information

Image
BRC No.RBRC00238
TypeTargeted Mutation CongenicCartagena
SpeciesMus musculus
Strain nameB6.129X1-Chrng<tm1> Chrne<tm1Mtak>/Rbrc
Former Common nameC57BL/6-TgH(AchR-gamma/epsilon)
H-2 Haplotype
ES Cell lineRW4 [129X1/SvJ]
Background strainC57BL/6JJcl
Appearanceblack
Strain development
Strain description
Colony maintenance
References
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

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

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

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

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

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)

  • congenital myasthenic syndrome 4A(DisGeNET, MedGEN)

  • congenital myasthenic syndrome 4B(MedGEN)
  • more 2 Diseases
  • congenital myasthenic syndrome 4C(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)

  • congenital myasthenic syndrome 4A(DisGeNET, MedGEN)

  • congenital myasthenic syndrome 4B(MedGEN)
  • more 2 Diseases
  • congenital myasthenic syndrome 4C(MedGEN)

  • lethal multiple pterygium syndrome(MedGEN)
  • Chrnecholinergic receptor, nicotinic, epsilon polypeptide11Chrnetargeted mutation 1, Masazumi Takahashi
  • autosomal recessive multiple pterygium syndrome(MedGEN)

  • congenital myasthenic syndrome 4A(DisGeNET, MedGEN)

  • congenital myasthenic syndrome 4B(MedGEN)
  • more 2 Diseases
  • congenital myasthenic syndrome 4C(MedGEN)

  • lethal multiple pterygium syndrome(MedGEN)
  • neoneomycin resistance gene (E. coli)11herpes simplex virus thymidine kinase promoter (HSV tk promoter)
  • autosomal recessive multiple pterygium syndrome(MedGEN)

  • congenital myasthenic syndrome 4A(DisGeNET, MedGEN)

  • congenital myasthenic syndrome 4B(MedGEN)
  • more 2 Diseases
  • congenital myasthenic syndrome 4C(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 genomic DNA, mouse muscle type nicotinic acetylcholine receptor epsilon subunit genomic DNA
    Research application
    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
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    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

    No Data