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Exon 1 was replaced with a neomycin resistance cassette. Southern blotting confirmed recombination but RT-PCR of exon 2 detected a transcript from the gene. Amplification and sequencing of the transcript revealed a previously unknown exon upstream of the targeted exon that was splicing to exon 2. Because no translational start site was found in this sequence, the mutation was predicted not to produce a functional protein. This was confirmed by immunohistochemistry on the hypothalamus. (J:126704)
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
