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An A to C mutation resulting in a D96A substitution was inserted in exon 3 by CRISPR/Cas9 mediated recombination. Immunohistochemical and western blot analysis indicated no change in protein expression in the brains of homozygous mice compared to wild-type controls. Altered lipid profiles in the brains of homozygotes indicate this mutation abolishes the lipid transport function of the gene. (J:256030)
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
