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Exons 3 and 4, encoding the conserved helix-hairpin-helix domain, were deleted by the insertion of a neomycin selection cassette. The absence of full-length transcript was verifed via RT-PCR analysis. The expression of the adjacent Tsc2 was unaffected. Sequence analysis revealed that should an aberrantly spliced transcript arise via readthrough of the neo transgene, the splicing of exon 2 to exon 5 would generate a frameshift mutation that precludes production of a functional protein. (J:77767)
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
