B6.Cg-Heph^sla/J

Stock number: 001180
Product name: sex-linked anemia
Research areas: Hematological Research

Description

These mice carry a spontaneous mutation at the Heph locus characterized by microcytic hypochromic anemia.

Detailed description

Newborn mice with X-linked anemia (Heph^sla) have lower hemoglobin levels at birth than wild type. Their red cell count is reduced to about 3/4 of the normal value, and the cells have a slight reduction in the mean corpuscular hemoglobin concentration along with a slight reduction in the mean cell volume. There is a reduction of hematopoietic tissue both in the liver and in the bone marrow. The anemia in newborn mutant mice is attributable to iron deficiency with total body iron lower than in normal newborn mice. Mice carrying the mutation develop moderate to severe microcytic hypochromic anemia.

Development

This mutation appeared in the progeny of a daughter of a male that had been irradiated. The original genetic background is unknown. It was subsequently backcrossed to C57BL/6.

Allele

Symbol: Heph^sla
Name: sex-linked anemia
MGI accession ID: MGI:1857042
Generation method: Radiation induced
Synonyms: sla
Marker symbol: Heph
Marker name: hephaestin
Marker synonyms: C130006F04Rik; CPL; Hp; mKIAA0698; sex linked anemia; sla
Chromosome: X
Strain of origin: Not Specified
Molecular note: The mutation in the sla mouse is thought to be a 3.5 kb deletion with breakpoints distal to exon 9 and proximal to exon 12. RT-PCR analysis of mRNA derived from intestine of homozygous mice confirmed that 582 nt of sequence was absent, and predicts an in-frame omission of 194 aa from the encoded protein. Northern blot analysis confirmed that a smaller message was made in homozygous mice. Immunohistochemistry of homozygotes detects HEPH staining only in the supreanuclear compartment of intestinal enterocgyes.