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EN
CRISPR/Cas9 targeting is used to introduce an out-of-frame deletion of 6 basepairs in exon 1 that results in the conversion of a phenylalanine codon into a premature stop codon (TTC-->TAG). Sanger sequencing confirmed the presence of a new T-A junction and a new stop codon in exon 1 at the 43rd amino acid position. qPCR analysis confirmed the modification was present in its mRNA. Shotgun proteomics confirmed selective loss of PM20D1 protein from liver. (J:264104)
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
