CRISPR/Cas9 genome editing is used to introduce a 10 base pair deletion in the border between exon 65 and intron 65. The mutation results in a frameshift and ablates the coding region. This deletion is analogous to an allele found in a human patient with neonatal progeroid syndrome (NPS). (J:251851)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Intragenic deletion
--
1
32
2

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

References Literature

Title
PMID
Journal
Year
IF
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