Aspartic acid codon 178 in exon 5 was changed to premature stop codon TAA using an sgRNA and a 183 nt single-stranded DNA oligonucleotide template with CRISPR/Cas9 technology. Two additional substitutions were introduced immediately downstream to create an EcoRI restriction site for diagnostic purposes. The mutation is encoded NM_001200038.1:c.562_569delinsTAAGAAT. All necessary components were microinjected into the cytoplasm of C57BL/6 zygotes. (J:261225)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6N x C57BL/6J)F1
Endonuclease-mediated
Nucleotide substitutions
--
1
2
12

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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