Strain Data Sheet

RBRC05954

Strain Information

Image
BRC No.RBRC05954
TypeTargeted Mutation and Chromosomal AberrationCartagena
SpeciesMus musculus
Strain nameB6.129S7-Dp(7Herc2-Mkrn3)1Taku
Former Common nameB6-Dp(7C)
H-2 Haplotype
ES Cell lineAB2.2 [129S7/SvEvBrd-Hprt<b-m2>]
Background strainC57BL/6JJcl
Appearance
Strain developmentDeveloped by Toru Takumi, Osaka Bioscience Institute and Allan Bradley, The Wellcome Trust Sanger Institute in 2004. The mutant mice were backcrossed to C57BL/6J over 20 times.
Strain descriptionChromosome-engineered mouse strain having a 6.3 Mb duplication of mouse chromosome 7 mirroring the human chromosome 15q11-13 duplication.
Colony maintenanceHeterozygote x Wild-type [C57BL/6JJcl]
References
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.
Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, Tomonaga S, Watanabe Y, Chung Y J, Banerjee R, Iwamoto K, Kato T, Okazawa M, Yamauchi K, Tanda K, Takao K, Miyakawa T, Bradley A, Takumi T
Cell, 137, 1235-1246 (2009). 19563756

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
HPRThypoxanthine guanine phosphoribosyl transferase (human)7HPRT
  • developmental delay with autism spectrum disorder and gait instability(MedGEN)

  • Prader-Willi syndrome(MedGEN)

  • precocious puberty, central, 2(MedGEN)
    • Herc2HECT and RLD domain containing E3 ubiquitin protein ligase 27Herc2
  • developmental delay with autism spectrum disorder and gait instability(MedGEN)

  • Prader-Willi syndrome(MedGEN)

  • precocious puberty, central, 2(MedGEN)
    • Mkrn3makorin, ring finger protein, 37Mkrn3
  • developmental delay with autism spectrum disorder and gait instability(MedGEN)

  • Prader-Willi syndrome(MedGEN)

  • precocious puberty, central, 2(MedGEN)
    • anonagouti7aK14 promoter
  • developmental delay with autism spectrum disorder and gait instability(MedGEN)

  • Prader-Willi syndrome(MedGEN)

  • precocious puberty, central, 2(MedGEN)
    • loxPphage P1 loxP7loxP
  • developmental delay with autism spectrum disorder and gait instability(MedGEN)

  • Prader-Willi syndrome(MedGEN)

  • precocious puberty, central, 2(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal Purkinje cell innervation(MP:0003894)

  • abnormal adrenaline level(MP:0003962)

  • abnormal brain white matter morphology(MP:0008026)

  • abnormal cued conditioning behavior(MP:0001454)

  • abnormal eye blink conditioning behavior(MP:0002807)
    • more 22 phenotypes
  • abnormal locomotor behavior(MP:0001392)

  • abnormal long bone morphology(MP:0003723)

  • abnormal long-term depression(MP:0001898)

  • abnormal noradrenaline level(MP:0003964)

  • abnormal odor adaptation(MP:0009562)

  • abnormal social/conspecific interaction behavior(MP:0002557)

  • decreased circulating osteocalcin level(MP:0030985)

  • decreased osteoblast cell number(MP:0004989)

  • decreased osteoid thickness(MP:0010930)

  • decreased osteoid volume(MP:0010927)

  • decreased serotonin level(MP:0010070)

  • decreased trabecular bone mass(MP:0010873)

  • decreased vocalization(MP:0020351)

  • enhanced coordination(MP:0003858)

  • genetic imprinting(MP:0003121)

  • increased anxiety-related response(MP:0001363)

  • increased dopamine level(MP:0001906)

  • increased fear-related response(MP:0003459)

  • increased startle reflex(MP:0001488)

  • increased susceptibility to age related obesity(MP:0003212)

  • long stride length(MP:0010540)

  • nervous system phenotype(MP:0003631)
    • Detailed phenotype data

    Ordering Information

    Donor DNAhuman HPRT genomic DNA, human Keratin14 genomic DNA, mouse Agouti genomic DNA, mouse Tyrosinase genomic DNA, Phage P1 loxP site
    Research applicationCre/loxP system
    Developmental Biology Research
    Mouse Models for Human Disease
    Neurobiology Research
    Specific Term and ConditionsThe RECIPIENT of BIOLOGICAL RESOURCE shall obtain a prior written consent on use of it from the DEPOSITOR.
    DepositorToru Takumi (RIKEN)
    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-
    Mouse of the Month Apr 2015

    BRC mice in Publications

    No Data