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Four base pairs were deleted from the coding region in exon 2 (c.318_321delTGCC), creating an allele with a frameshift mutation and premature stop codon. A loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The mutation mimics a human mutation associated with OS/PDB (osteosarcoma/Paget's disease of bone). (J:335495)
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
