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The targeting vector is designed to insert a loxP-flanked STOP cassette, containing a neomycin resistance cassette, upstream of exon 2 of the gene. Exon 2 was modified to harbor a missense mutation at codon 29, resulting in a proline to serine mutation (P29S) commonly found in patients with cutaneous melanoma. (J:277539)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
