A C to T point mutation was introduced at position 1450 in exon 13 resulting in a tryptophan substitution for arginine at amino acid 484. In addition, a loxP site downstream of exon 12, a FRT-flanked neomycin cassette and a loxP site in exon 13 were introduced upstream of the mutation. This mutation corresponds to c.1447C>T, pArg148Trp in humans that is associated with the most severe forms of vanishing white matter. Cre-mediated recombination removed the floxed region which includes the neomycin cassette, leaving the R484W mutation in exon 13. (J:234659)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
--
1
4
3

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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