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A genomic fragment encompassing exons 1 and 2 was replaced with a floxed neo cassette inserted by homologous recombination. RT-PCR analysis showed the presence of the alternative transcript composed of exon 1b spliced directly to exon 3 which is the endoplasmic reticulum isoform, but absence of the mitochondrial specific isoform, indicating this mouse is an isoform-specific knock-out. (J:87616, J:187268)
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
