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Exon 12 was replaced with a modified exon containing the substitution of the arginine codon at position 899 with a termination codon (p.R899*). A loxP site flanked neomycin resistance gene cassette was inserted into intron 12. This mutation is associated with pulmonary arterial hypertension in humans. (J:224752)
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
