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This mutation comprises a T to A transversion at nucleotide position 1319, resulting in replacement of valine by glutamic acid. (J:104190) Additional incidental mutations were detected in sequencing for the causative mutation, Nphp3pol, and may be present in stocks carrying this mutation.
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
