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A T to A transversion is located in exon 4 at 536 bp from the start site. This transversion results in a isoleucine to asparagine amino acid change. Western blot analysis indicates that protein expression in the liver of homozygous mice is reduced compared to wild-type controls but levels in the adrenals and ovaries are similar to wild-type controls. (J:152482)
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
