A G to A change at position 500 resulting in an arginine to glutamine substitution at amino acid 167 (R167Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria. (J:275245)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv x C57BL/6
Targeted
Insertion, Single point
--
1
2
2

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

References Literature

Title
PMID
Journal
Year
IF
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