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EN
The original pupblication described this ENU induced mutation as an A739T mutation resulting in a leucine to stop mutation at position 247 (L247Stop). J:250814 found a different mutation, an A1276T mutation, with a stop codon at K426. A mutant truncated protein is expressed in germ cells, detected by an antibody that is presumably the N-terminal domains without the ZNF domain. (J:179895, J:250814)
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
