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EN
ENU mutagenesis caused a missense mutation in exon 4 of the gene where adenine was changed to a cystosine at position 1779 (A1779C). This resulted in a threonine-to-proline substitution at position 512 (T512P). Protein expression was significantly depressed in homozygote thymocytes compared to wild-type while mRNA levels were unaffected. (J:152601)
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
