Exon 3 was replaced with a floxed neo cassette and a modified exon 3 in which a nucleotide substitutions (c.G2723A and a silent mutation generating a novel and unique Sal1 restriction site to facilitate genotyping) result in the amino acid substitution of histidine for arginine at position 132 (R132H), mimicking a mutation found in human patients suffering from leucoencephalopathy with vanishing white matter. (J:179801)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Nucleotide substitutions
--
1
6
7

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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