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CRISPR/Cas9 technology targeting exon 2 generated an 81 bp deletion (Chr 7:119077409-119077489) from 21 bp downstream of the start codon (second exon) to 13 bp from the 5 end of the second intron. Western blot analysis confirmed the absence of uromodulin in urine and in the kidney. (J:328144)
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
