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The coding region was replaced with one containing a A to C substitution in exon 4 resulting in the substitution of alanine for aspartic acid at position 266 (D266A). This mutation prevents SMAD2 and SMAD3 activation but does not affect interacts with Acvrl1. RT-PCR analysis on spleen and liver was used to confirm the expression of the modified transcript. (J:128498)
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
