Strain Data Sheet

RBRC05498

Strain Information

Image
BRC No.RBRC05498
TypeTargeted MutationCartagena
SpeciesMus musculus
Strain nameB6.129P2-Samd9l<tm1Homy>
Former Common nameTITAN KO
H-2 Haplotype
ES Cell lineE14 [129P2/OlaHsd]
Background strainC57BL/6NCrlCrlj
Appearance
Strain developmentDeveloped by Hiroaki Honda, Research Institute for Radiation Biology and Medicine, Hiroshima University in 2006. E14 ES cells (129P2/OlaHsd) were used. The mutant mice were crossed to C57BL/6N mice.
Strain descriptionSamd9L knockout mice. A part of Exon 2 of Samd9L gene was replaced with a lacZ-loxP-neo-loxP cassette. Homozygous mutant mice are viable and fertile.
Colony maintenanceHeterozygote x Wild-type [C57BL/6NCrlCrlj]
References
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E
Am. J. Hum. Genet., 79, 759-764 (2006). 16960814

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome.
Asou H, Matsui H, Ozaki Y, Nagamachi A, Nakamura M, Aki D, Inaba T
Biochem. Biophys. Res. Commun., 383, 245-251 (2009). 19358830

The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.
Jiang Q, Quaynor B, Sun A, Li Q, Matsui H, Honda H, Inaba T, Sprecher E, Uitto J
J. Invest. Dermatol., 131, 1428-1434 (2011). 21412262

Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.
Nagamachi A, Matsui H, Asou H, Ozaki Y, Aki D, Kanai A, Takubo K, Suda T, Nakamura T, Wolff L, Honda H, Inaba T
Cancer Cell, 9;24(3):305-17 (2013). 24029230

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Samd9l
MGI:1343184		sterile alpha motif domain containing 9-like6Samd9l <tm1Homy> targeted mutation 1, Hiroaki Honda
  • ataxia-pancytopenia syndrome(MedGEN)

  • monosomy 7 myelodysplasia and leukemia syndrome 1(MedGEN)
    • lacZ beta-galactosidase (E. coli)6
    loxP phage P1 loxP6loxP
    loxP phage P1 loxP6loxP
    neo neomycin resistance gene (E. coli)6 herpes simplex virus thymidine kinase promoter (HSV tk promoter)

    Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal definitive hematopoiesis(MP:0002123)

  • abnormal erythroblast morphology(MP:0011176)

  • abnormal erythropoiesis(MP:0000245)

  • abnormal megakaryocyte morphology(MP:0002417)

  • abnormal myelopoiesis(MP:0001601)
    • more 16 phenotypes
  • abnormal neutrophil morphology(MP:0005065)

  • abnormal platelet morphology(MP:0004720)

  • anemia(MP:0001577)

  • anisopoikilocytosis(MP:0002641)

  • decreased neutrophil cell number(MP:0000222)

  • enlarged spleen(MP:0000691)

  • giant platelets(MP:0030025)

  • homeostasis/metabolism phenotype(MP:0005376)

  • increased bone marrow cell number(MP:0000321)

  • increased leukemia incidence(MP:0002026)

  • increased leukocyte cell number(MP:0000218)

  • increased number of Howell-Jolly bodies(MP:0010178)

  • increased susceptibility to viral infection(MP:0002418)

  • increased tumor incidence following infection(MP:0012563)

  • polychromatophilia(MP:0005097)

  • premature death(MP:0002083)
    • Detailed phenotype data

    Ordering Information

    Donor DNAE. coli lacZ, poly A, Phage P1 loxP sites, herpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli neo, mouse Samd9l genomic DNA
    Research applicationCre/loxP system
    Fluorescent Proteins/lacZ System
    Specific Term and ConditionsPrior to requesting the BIOLOGICAL RESOURCE, the RECIPIENT must obtain approval from the DEPOSITOR using the Approval Form.
    DepositorHiroaki Honda (Tokyo Women's Medical University)
    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)
    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data