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Slc12a4Rbc10
Chemically induced Allele Detail
Nomenclature
Symbol: Slc12a4Rbc10
Name: solute carrier family 12, member 4; red blood cell mutant 10
MGI ID: MGI:5703920
Synonyms: KCC1M935K, RBC10m
Gene: Slc12a4  Location: Chr8:106670222-106692729 bp, - strand  Genetic Position: Chr8, 53.06 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Constitutively active)
Mutation:    Single point mutation
 
Mutation detailsENU 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Slc12a4 Mutation:  28 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory