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532 nucleotides of the gene spanning exons 10-12 were replaced with a neomycin resistance cassette via homologous recombination resulting in a deletion and frameshift. RT-PCR verified the presence of mutant transcript in brain of homozygous mutant animals. Disruption of protein function was verified via ascorbic-acid uptake assay. Mouse embryonic fibroblasts from homozygous mutant animals exhibit less than 5% of normal ascorbic-acid uptake compared to wild-type. (J:76194)
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
