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CRISPR/Cas technology introduced nucleotide substitutions that result in the amino acid substitution of valine for glycine at position 23 (p.Gly23Val). This mutation is associated with disease in human patients. Western blots show a 70% reduction in protein expression from this allele. (J:240526)
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
