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Using an sgRNA (targeting ATGTATTTCAGGTAGAAGTC) and an ssODN template (AGGTGAGCCTGATACTCGGCGGGCAATTTTCATGTAGATCTTTTAAACTTCTAATGAATGGCTTTCCCTTCTCAGATATCCTACAAGGAAACTTTAAACTGGACTTCTACCTGAAATACATTCAGAAGGATCTCCGCCTCGCCATTGCATTGGGTGATGCAGTCAACCACCCCACTCCCATGGCAGCTGCAGCCAATGAG) with CRISPR/Cas9 technology, proline codon 495 (CCT) was changed to leucine (CTG) (p.P495L). This mutation of the highly conserved proline residue in the beta-hydroxyacid dehydrogenase (betaHAD) domain mimics one found in some congenital heart disease (CHD) patients. (J:322763)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
