Two missense mutations (L111R and N122D) were engineered into exon 4. A floxed neo cassette included in the targeting vector was excised from intron 3 prior to germline transmission. The mutations, which manifest in the first extracellular domain of the alpha 2 isoform, impair cardiac glycoside affinity. Western blot analysis of mutant mice indicated that the mutations did not affect either the level protein expression or the distribution of the alpha 1 and alpha 3 isoforms. (J:87082)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Nucleotide substitutions
--
1
10
18

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top