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Exon 4 was replaced with a cassette containing both uracil- and neomycin-resistance genes. The insertion deleted 95 bp, including the splice donor site of exon 4, and introduced a nonsense mutation at codon 175. Normal protein was undetected by Western blot analysis of homozygous mutant brain tissue. (J:81968)
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
