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CRISPR-targeting generated a 4 nucleotide substitution in exon 14 that results in the amino acid substitution of tryptophan for arginine at position 619 (R619W). An additional silent mutation (CTC to CTT) was introduced at amino acid position 616. (J:246242)
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
