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The transgene consists of a fragment of human genomic DNA encoding COL2A1 with an arginine 519 cysteine (C to T) mutation from skin fibroblasts from a patient with osteoarthritis with mild chondrodysplasia. The fragment includes 4.5 kb of 5' upstream regulatory sequence and 3.0 kb of 3' downstream sequences past the major polyadenylation signal. No line numbers identified but the founder selected carried 2 copies of the transgene. (J:307985)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
