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A loxP site was inserted upstream of a modified exon 7 in which a C to T point mutation results in the amino acid substitution of cysteine for arginine at position 247 (R247C). This mutation mimics a rare variant identified in humans. Flp-mediated recombination removed an FRT flanked neomycin resistance cassette inserted downstream of exon 8, leaving single loxP and FRT sites. (J:212664)
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
