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TALEN technology generated a 19 bp deletion (c.1258_127del) in exon 7. This deletion is predicted to result in a premature stop codon at amino acid 431 and resembles the patient variant p.Arg410*. Western blot analysis confirmed absence of protein in homozygotes. (J:256227)
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
