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A T to C transition was found at nucleotide position 2099 (Genbank NM_010566) in ENU mutant mice. This should cause an isoleucine to threonine change at amino acid residue 641. An in-vitro 5'-phosphatase assay demonstrated reduced enzyme activity as compared to un-mutated controls. Protein levels were reduced in Western blots as were mRNA levels by qRT-PCR. (J:173266)
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
