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EN
Exon 4 was replaced with one in which a C to T transition resulted in the amino acid substitution of cysteine for arginine at position 170 (R170C), mimicking a mutation associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in humans. A silent mutation creating a HincII site was introduced in exon 4 for genotyping purposes. Cre-mediated recombination removed the floxed neo cassette inserted downstream of exon 5. (J:191454)
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
