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Exon 5 was replaced with a mutated exon containing an arginine to histidine change at position 206 (R206H) in the glycine-serine-rich domain seen in patients with fibrodysplasia ossificans progressiva. A loxP-flanked CAG- tdTomato-T2A-Neo stop cassette was inserted in intron 4. (J:257905)
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
