Slc11a2^mk
Spontaneous Allele Detail

Summary

• Symbol: Slc11a2^mk
• Name: solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2; microcytic anemia
• MGI ID: MGI:1856400
• Synonyms: mk
• Gene: Slc11a2 Location: Chr15:100285779-100322090 bp, - strand Genetic Position: Chr15, 56.29 cM
• Alliance: Slc11a2^mk page

Mutation origin

• Strain of Origin: (C57BL/6J x DBA/2J)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A glycine to arginine missense mutation resulting from a G-to-A transition within codon 185 (p.G185R) has been associated with the observed phenotype. The mutation disrupts a critical transmembrane domain in the encoded protein. (J:42052)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 2 lines available
• Carrying any Slc11a2 Mutation: 38 strains or lines available

Notes

Homozygotes are recognizable by their pallor at birth. The red cells are smaller than normal and hypochromic from 15 days of gestation onward, but they are present in normal or greater than normal numbers (J:5167). Viability and fertility may be reduced and, on some genetic backgrounds, skin lesions occur early in life (J:5236). The anemia appears to be due to a generalized impairment of cellular iron uptake involving transfer of iron from the intestinal lumen to the mucosa as well as from plasma to erythroblasts (J:5293, J:5555, J:5306). Increased levels of free erythrocyte protoporphyrin have been reported in mice with microcytic anemia (J:31039). This mutation has been identified as missense mutation of Slc11a2, thus identifying Slc11a2 as an iron transport gene (J:42052). Microcytic anemia had been reported as a mutation in the Nfe2 nuclear DNA-binding protein gene, on the basis of an amino acid substitution in Nfe2 in microcytic anemia mice. However, non-anemic mice of a different inbred strain were also shown to have the same substitution (J:11821), and it was also shown that the anemia was not corrected by insertion of a wild-type Nfe2 transgene (J:22119).

References

• Original: J:5167 Russell ES, et al., Characterization and genetic studies of microcytic anemia in house mouse. Blood. 1970 Jun;35(6):838-50
• All: 24 reference(s)