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EN
Exon 6 was replaced with one in which nucleotide substitutions result in the introduction of an XbaI site at nucleotide 799 and the amino acid substitution of arginine for a stop codon at position 267 (X267R) recapitulating the familial British dementia (FBD) mutation and alanine for threonine at the 12th codon of exon 6 to humanize the sequence. A neo cassette inserted upstream of the modified exon 6 was removed by cre-mediated recombination. (J:166696)
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
