Exon 7 was targeted for a G-to-A mutation at alanine codon 449 (GCT), changing it to threonine (ACT) (c.1345G>A, p.Ala449Thr), with sgRNAs and an ssODN template using CRISPR/Cas9 technology. This mutation mimics the most common human recessive mutation p.Ala467Thr. (J:307133)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Endonuclease-mediated
Single point
--
1
23
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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