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 descriptionアセチルコリンレセプターは、胎児期にはγサブユニットが発現しており，生後，εサブユニットへとスイッチする (γ/εスイッチ) ．この機能を解析するためにγサブユニットの欠損マウスを作った。γサブユニット遺伝子をホモノックアウトしたマウスでは，生まれて2日ほどは生きるが，前肢は少し動くが後肢は動かず，ミルクを飲むことができずに死亡する．前肢での神経筋接合部について解析したところ、構造も活動電位も異常だった。
Colony maintenanceBackcrossing to C57BL/6. Or sister-brother mating of heterozygotes. Breeding performance is good.
References
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

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

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Chrng
MGI:87895		cholinergic receptor, nicotinic, gamma polypeptide1Chrng<tm1Mtak>
MGI:3586495		targeted mutation 1, Masazumi Takahashi
  • autosomal recessive multiple pterygium syndrome(MedGEN)

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

    Phenotype

    Phenotype annotation from literatures by Mammalian phenotype 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

    供与核酸herpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli neo, mouse muscle type nicotinic acetylcholine receptor gamma subunit
    Research applicationNeurobiology Research
    提供条件利用者は事前に寄託者の提供承諾書を得る。研究成果の公表にあたって寄託者の指定する文献を引用する。研究成果の公表にあたって謝辞の表明を必要とする。公表を前提とした学術研究に限る。
    分譲に当たっては寄託後、寄託者との共同研究とする。
    利用者が当該リソースを使用した研究成果に基づく特許等の申請を行う場合は、寄託者と別途協議を行う。
    他のトランスジェニックあるいはノックアウトマウスその他遺伝子改変マウスとの交配は寄託者と別途協議を行う。
    利用者から他の利用者への分与は禁止する。
    Depositor高橋　正純（Centre National de Genotypage）
    Strain Status凍結胚のアイコン凍結胚
    Strain Availability凍結胚より作出したマウスを2~4ヶ月以内に提供可能
    凍結胚を1ヶ月以内に提供可能
    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