Using CRISPR/Cas9 technology and an sgRNA and an ssODN donor, exon 2 was targeted with a c.56C>T mutation to change codon 19 from proline to leucine (p.P19L). Additionally, a silent c.45G>C mutation was introduced into the third base of alanine codon 15. The P19L substitution is the equivalent of the P17L mutation found in human dentinogenesis imperfecta (DGI) type II and type III patients. (J:278819)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Single point
--
1
6
3

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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