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A tyrosine to STOP codon at amino acid 486 (p.Y486*) was introduced in exon 8 and part of the intron between exon 8 and exon 9 was replaced with a PGK-neomycin cassette. RT-PCR and Western blot analysis indicates very low mRNA and protein expression, respectively, in homozygotes. The Y486* mutation is equivalent to the Y485* mutation seen in individuals with Charcot-Marie-Tooth disease type 2Q. (J:288186)
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
