A G to A point mutation was introduced at position 572 in exon 4, resulting in a histidine substitution for arginine at amino acid 191. In addition, a loxP-flanked neomycin cassette was inserted downstream of exon 5. This mutation corresponds to c.584G>A, pArg195His in humans that is associated with the most severe forms of vanishing white matter. Cre-mediated recombination removed the floxed neomycin resistance cassette leaving the R191H mutation in exon 4. (J:234659)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
--
1
6
5

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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