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CRISPR/cas9 endonuclease-mediated genome editing is used to delete a lysine (K82delta, AAG) and create a silent Kpnl restriction site in exon 3. The mutation is in the TEL patch of Acd (also known as TPP1). The mutation is orthologous to the human K170delta mutation identified in dyskeratosis congenita patients. (J:312923)
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
