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CRISPR/Cas9 technology generated a C to T change at position 1411 (c.1411C>T) resulting in a stop codon at arginine 471 (p.R471*) in exon 21. This is a mutation described in a patient with Alport Syndrome. qPCR indicates decreased mRNA levels in the renal cortex. (J:283613)
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
