Valine codon 150 (GTC) in exon 4 was changed to isoleucine (ATT) (p.V150I) using a crRNA (targeting CCTCTGTGTGGCAGATGACT) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of human SNPs rs3748415 found in some left ventricular noncompaction (LVNC) patients. The allele was created in zygotes that contained the Mib1em1Jlp allele and created at the same time as the Asxl3em1Jlp allele. (J:338889)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6-Mib1em1Jlp
Endonuclease-mediated
Nucleotide substitutions
--
1
2
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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