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EN
A CGG to TGA change resulting in an arginine to stop codon change at amino acid 368 (p.R368*) was introduced in exon 12 and a floxed neomycin cassette was inserted upstream of exon 12. The selection cassette was removed via cre-mediated recombination. This nonsense mutation has been identified in patients with type 1 acrodysostosis. (J:303060)
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
