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CRISPR/Cas9 technology inserted a T at c.777 (c.777dup) in exon 8 resulting in a frameshift that leads to a premature stop in the next codon at lysine 260. Western blot analysis confirmed absence of protein in lung tissue. This is a mutation found in a family with bilateral renal agenesis. (J:314482)
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
