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A genomic fragment containing most of exon 3 and all of exon 4 was replaced with a promoterless neomycin selection gene. A shortened transcript is expressed from this allele that splices exon 2 to exon 5. A 50% reduction in protein activity was demonstrated in tissues of heterozygous mice. Additional genetic studies and FISH analysis indicated that a duplication and translocation of flanking sequences to a different chromosome had taken place. See also Ts(12<16>)1Cje. (J:42265)
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
