Slc12a4^Rbc10
Chemically induced Allele Detail

Summary

• Symbol: Slc12a4^Rbc10
• Name: solute carrier family 12, member 4; red blood cell mutant 10
• MGI ID: MGI:5703920
• Synonyms: KCC1^M935K, RBC10^m
• Gene: Slc12a4 Location: Chr8:106670222-106692729 bp, - strand Genetic Position: Chr8, 53.06 cM
• Alliance: Slc12a4^Rbc10 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Constitutively active)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to A point mutation that results in the amino acid substitution of lysine for methionin at position 935 (M935K). (J:227339)
• Inheritance: Semidominant

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc12a4 Mutation: 55 strains or lines available

References

• Original: J:227339 Brown FC, et al., Activation of the erythroid K-Cl cotransporter Kcc1 enhances sickle cell disease pathology in a humanized mouse model. Blood. 2015 Dec 24;126(26):2863-70
• All: 3 reference(s)