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The transgene contains human BAC RP11-209M4 in which 52 KB between the 3' end of MEOX1 and SOST are removed. This region is removed in human patients with Van Buchem disease. Three lines were generated (A, B, and an unnamed line). RT-PCR and quantitative PCR confirmed that all lines express human SOST in the mineralized bone of neonatal and adult mice (skull, rib, and femur) and in the adult kidney and heart at a lesser amount than in mice expressing the wild-type BAC. No expression of human Meox was detected. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:99965)
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
