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Glutamic acid codon 109 (GAG) was changed to lysine (AAG) (p.E109K). This mutation corresponds to one found in patients with hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Cre-mediated recombination removed the loxP site flanked neomycin resistance cassette that was inserted into intron 5. Western blot analysis confirmed the presence of protein expression in the testis. The product of this allele lacks exonuclease activity. (J:198719)
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
