Mice with this transgene overexpress a mutant form of human solute carrier family 9 (sodium/hydrogen exchanger), member A1 (SLC9A1; formerly NHE1) in the myocardium. The transgene contains a 5.5-kb mouse genomic DNA fragment that encompasses the promoter of the myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6) gene driving expression of a 2551-bp cDNA encoding C-terminally hemagglutinin- (HA-) tagged human SLC9A1 in which four positively charged amino acids in the cytoplasmic regulatory domain (lysine at amino acid position 641 and arginine at positions 643, 645 and 647) have been replaced by the negatively-charged glutamic acid (K641E, R643E, R645E, R647E). These substitutions increase the protein's Na+ H+ transporter activity by shifting its pH preference toward the alkaline and by interfering with its regulation by calmoduolin. (J:82809, J:125924)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
--
Insertion
--
1
--
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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