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An A to G substitution was detected at nucleotide 224 of the mRNA, corresponding to the 8th base before the splice donor site of exon 5, resulting in a premature stop codon (S54X) after amino acid 54. Homozygous MEFs showed loss of protein immunostaining indicating this is a null allele. (J:94456, J:205269)
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
