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EN
Exon 8 was replaced with a modified exon with a C to T transition that results in the amino acid substitution of leucine for proline at position 394 (P394L), mimicking a mutation found in some Paget's disease of bone (PDB) patients. Cre-mediated recombination removed the neo cassette inserted upstream of the modified exon 8. (J:173755)
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
