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EN
Exon 9 was replaced with a modified one in which a G to C point mutation results in the amino acid substitution of proline for alanine at position 457 (A457P), mimicking a mutation found in some postural orthostatic tachycardia syndrome (POTS) patients. A self-excising neomycin resistance cassette removed itself from the final allele. (J:200046)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
