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The mutation in the mnd2 mouse has been identified as an A-to-T transversion that causes a Ser276Cys change in the protease domain of the protein. This mutation has no effect on mRNA or protein concentrations. However, enzyme assays reveal that the serine protease activity of this protein is lost. (J:85268)
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
