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Exon 1 was replaced with an exon 1 containing a 27 bp duplication (9 amino acid duplication of ALLLLCALL) in the signal peptide followed by a floxed neomycin cassette. The neomycin cassette was removed via flp-mediated recombination. This duplication has been identified in patients with early onset familial Pagets disease of bone. (J:312215)
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
