Strain Data Sheet

RBRC01736

Strain Information

Image
BRC No.RBRC01736
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameCFO-hea/+
Former Common name
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain description
Colony maintenance
References
Hereditary erythroblastic anaemia in the laboratory mouse.
Shimizu K, Keino H, Ogasawara N, Esaki K
Lab. Anim., 17, 198-202 (1983). 6678340

Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse.
White R A, McNulty S G, Roman S, Garg U, Wirtz E, Kohlbrecher D, Nsumu N N, Pinson D, Gaedigk R, Blackmore K, Copple A, Rasul S, Watanabe M, Shimizu K
Blood, 104, 1511-1518 (2004). 15155459

Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
White R A, McNulty S G, Nsumu N N, Boydston L A, Brewer B P, Shimizu K
Genomics, 85, 330-337 (2005). 15718100

Formation of lattice-like inclusions in circulating erythroblasts of the laboratory mouse (hea/hea) with hereditary congenital erythroblastic anemia.
Shimizu K
Acta Haematologica Japonica 49:816-822 (1986). 3020854

Congenital Anomalies, 25, 107-112 (1985).

Congenital Anomalies, 25, 175-180 (1985).

Acta Histochemica and Cytochemica 17:615-621 (1984).

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ttctetratricopeptide repeat domain 717Ttchereditary erythroblastic anemia

Phenotype

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

  • abnormal erythrocyte cell number(MP:0001586)

  • abnormal erythrocyte morphology(MP:0002447)

  • abnormal erythropoiesis(MP:0000245)

  • abnormal hepatocyte morphology(MP:0000607)
    • more 24 phenotypes
  • abnormal mineral level(MP:0000192)

  • abnormal skin pigmentation(MP:0002095)

  • anemia(MP:0001577)

  • anisocytosis(MP:0002642)

  • colorless urine(MP:0011413)

  • decreased body weight(MP:0001262)

  • decreased hematocrit(MP:0000208)

  • decreased hemoglobin content(MP:0002874)

  • decreased megakaryocyte cell number(MP:0008255)

  • enlarged spleen(MP:0000691)

  • epidermal hyperplasia(MP:0001222)

  • epidermal necrosis(MP:0001220)

  • erythroblastosis(MP:0005096)

  • extramedullary hematopoiesis(MP:0000240)

  • hyperkeratosis(MP:0001242)

  • increased circulating iron level(MP:0008810)

  • increased leukocyte cell number(MP:0000218)

  • low mean erythrocyte cell number(MP:0002594)

  • pallor(MP:0003717)

  • poikilocytosis(MP:0002643)

  • polychromatophilia(MP:0005097)

  • postnatal lethality(MP:0002082)

  • postnatal lethality, complete penetrance(MP:0011085)

  • reticulocytosis(MP:0002640)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research application
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Lab. Anim., 17, 198-202 (1983).
    DepositorKoji Shimizu (Naruto University of Education)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data