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RT-PCR analysis revealed an 867-bp in-frame deletion in the 5' part of the transcript. This deletion is predicted to result in a deletion of 289 amino acids, corresponding to approximately one third of the normal protein product. The encoded protein was not detected by Western blotting of protein extracts derived from kidney of mutant mice. (J:65643)
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
