Two mutations were introduced in intron 2 using a crNA (targeting TGGGGGCTCTGACTGTTTGA) and an ssODN template with CRISPR/Cas9 technology: c.175-106A>G and c.175-76G>A. These mutations are the equivalent of human SNPs rs884785 (c.175-56A>G) and rs884786 (c.175-27G>A) found in some left ventricular noncompaction (LVNC) patients. (J:338889)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Nucleotide substitutions
--
1
--
1

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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