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CRISPR/Cas9 technology deleted exon 10, mimicking the deletion of the human exon 9, the most common mutation observed in Perlman syndrome patients. This deletion is predicted to preserve the reading frame and remove only 1% of the residues in the catalytic RNB domain. Western blot analysis indicates that protein levels are dramatically reduced in the kidneys at E18.5. (J:272435)
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
