These mice carry the spontaneous Exoc6hbd deletion and are characterized by microcytic anemia, red cell hypochromia, microcytosis, reticulocytosis, and low levels of hemoglobin.Read More +
Mice homozygous for the spontaneous mutation hbd exhibit microcytic anemia, red cell hypochromia and microcytosis, reticulocytosis (Bannerman et al., 1986), and low levels of hemoglobin. Microcytic anemia can be cured by bone marrow transplantation from normal donors (Bloom et al., 1997). Homozygotes can live to 23 months of age, however, B-cell homeostasis is compromised in older mice (Lipovsky et al., 2003). Heterozygotes do not display a clinical phenotype.
This strain originated in an unknown inbred agouti mouse stock (Scheufler et al., 1969) and has been backcrossed to C57BL/6 for more than 10 generations.
|Allele Name||hemoglobin deficient|
|Gene Symbol and Name||Exoc6, exocyst complex component 6|
|Strain of Origin||STOCK Ay|
|General Note||In J:8251, the mutation was transferred from STOCK Ay into the AB/Jena-Halle strain.|
|Molecular Note||This is a spontaneous deletion of approximately 4500 bp including all of exon 8. In the resulting product, exon 7 is spliced to exon 9 and the coding sequence remains in frame.|