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Leucine codon 437 (CTC) in exon 14 was changed to phenylalanine (TTC) (NM_175462.4:c.1309C>T, p.L437F) using an sgRNA (targeting GACCTCATTCCTGCTGCTG) and an ssODN template with CRISPR/Cas9 technology. This gain-of-function mutation of the highly conserved leucine in the RCK1 domain of the encoded peptide is the equivalent of the human p.L456F mutation. (J:324580)
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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References Literature
Title
PMID
Journal
Year
IF
