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Two transgenic lines (CL1 and CL2) expressing the constitutively active human gene with a H223R mutation, under the control of the 2.3-kb fragment of the mouse 1(I) collagen promoter were established. Founder CL1 was shown by Southern blot analysis to carry only one copy of the transgene, while founder CL2 carried several copies. Only CL2 exhibited mutant phenotype and was studied further. (J:67276)
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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References Literature
Title
PMID
Journal
Year
IF
