Strain Data Sheet

RBRC00951

Strain Information

Image
BRC No.RBRC00951
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6;129-Psen1<tm1Shs>/Shs
Former Common namePsen1 null
H-2 Haplotype
ES Cell lineR1 [(129X1/SvJ x 129S1/Sv)F1-Kitl<+>]
Background strainC57BL/6JJcl
Appearanceblack [a/a B/B C/C]
Strain developmentDeveloped by Takuji Sirasawa, Tokyo Metropolitan Institute of Gerontology at 2002. A tk-neo cassette from pMC1-neo was inserted into the exon 9 of the Psen1 gene.
Strain descriptionB6.Cg-Psen1<tm1Shs>. Presenilin 1 has been found as a major causal gene for early-onset familial Alzheimer's disease (FAD), involving in the control of the cell cycle in neuronal precursor cells during development. Homozygous mutant embryos exhibit small body size and intracranial hemorrhages at late gestation.
Colony maintenanceBackcross to C57BL/6 (Heterozygote x C57BL/6JJcl)
References
The role of presenilin 1 during somite segmentation.
Koizumi K, Nakajima M, Yuasa S, Saga Y, Sakai T, Kuriyama T, Shirasawa T, Koseki H
Development, 128, 1391-1402 (2001). 11262239

Impaired cell cycle control of neuronal precursor cells in the neocortical primordium of presenilin-1-deficient mice.
Yuasa S, Nakajima M, Aizawa H, Sahara N, Koizumi K, Sakai T, Usami M, Kobayashi S, Kuroyanagi H, Mori H, Koseki H, Shirasawa T
J. Neurosci. Res., 70(3):501-13 (2002). 12391611

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Psen1
MGI:1202717		presenilin 112Psen1<tm1Shs>
MGI:3051523		targeted mutation 1, Takuji Shirasawa
  • acne inversa, familial, 3(MedGEN)

  • Alzheimer disease 3(MedGEN)

  • dilated cardiomyopathy 1U(MedGEN)
    • more 2 Diseases
  • frontotemporal dementia(DisGeNET, MedGEN)

  • Pick disease(DisGeNET, MedGEN)
    • neo neomycin resistance gene (E. coli)12 herpes simplex virus thymidine kinase promoter (HSV tk promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal angiogenesis(MP:0000260)

  • abnormal blood vessel morphology(MP:0001614)

  • abnormal brain vasculature morphology(MP:0004950)

  • abnormal capillary morphology(MP:0003658)

  • abnormal rib morphology(MP:0000150)
    • more 16 phenotypes
  • abnormal rostral-caudal patterning of the somites(MP:0008530)

  • abnormal sclerotome morphology(MP:0006029)

  • abnormal vascular development(MP:0000259)

  • abnormal vascular endothelial cell morphology(MP:0006055)

  • abnormal vertebral body morphology(MP:0000141)

  • abnormal vertebral column morphology(MP:0004703)

  • abnormal vertebral lamina morphology(MP:0004605)

  • absent vertebral pedicles(MP:0000140)

  • caudal body truncation(MP:0004073)

  • decreased capillary density(MP:0020329)

  • increased vasodilation(MP:0005590)

  • intracerebral hemorrhage(MP:0001916)

  • neonatal lethality, complete penetrance(MP:0011087)

  • short tail(MP:0000592)

  • skin edema(MP:0001786)

  • vascular stenosis(MP:0005412)
    • Detailed phenotype data

    Ordering Information

    Donor DNAherpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli neo, mouse presenilin 1 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. Development, 128, 1391-1402 (2001). The users must collaborate with the supplier for two years from the date of supply.
    The users must discuss with the supplier when the users propose patents or present findings based on the results of investigation using the resource.
    DepositorTakuji Shirasawa (Tokyo Metropolitan Institute of Gerontology)
    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)
    Lab HP (Japanese), Lab HP (English)
    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data