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An 8.9 kb genomic fragment containing the human gene was micro-injected into single-cell embryos. This version of the gene contains a T>A mutation causing a p.Leu68Gln substitution in the encoded peptide. This mutation is found in patients suffering from hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I). (J:269038)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
