B6.Cg-Exoc6^hbd/J

Stock number: 001044
Product name: hemoglobin deficient
Research areas: Hematological Research

Description

These mice carry the spontaneous Exoc6^hbd deletion and are characterized by microcytic anemia, red cell hypochromia, microcytosis, reticulocytosis, and low levels of hemoglobin.

Detailed description

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.

Development

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

Symbol: Exoc6^hbd
Name: hemoglobin deficient
MGI accession ID: MGI:1856894
Generation method: Spontaneous
Synonyms: hbd
Marker symbol: Exoc6
Marker name: exocyst complex component 6
Marker synonyms: 4833405E05Rik; EXOC6A; hbd; msec15; SEC15; SEC15L; SEC15L1; SEC15L3; Sec15p
Chromosome: 19
Strain of origin: STOCK A^y
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.
General note: In J:8251, the mutation was transferred from STOCK A^y into the AB/Jena-Halle strain.