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Intron 9 of the mouse Npc1 gene was replaced with intron 9 of the human NPC1 gene containing the c.1554-1009G to A substitution. This incorporation generates a premature stop codon and a truncated protein. The results of western blot analysis indicate a faint band similar to the wild type protein in brain, and the absence of a band in liver. (J:266795)
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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References Literature
Title
PMID
Journal
Year
IF
