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A T to A transversion was induced by ENU mutagenisis in the fourth intron 14 bp upstream of exon 5. A complimentation assay was performed to determine the gene affected. While a transcript is detectable by RT-PCR the resulting protein has less than 1% of wild-type enzymatic activity in the testes, spleen, pancreas and heart. (J:125094)
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
