Nthl1^tm1Yas

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Species

Mus musculus

Symbol

Nthl1^tm1Yas

Category

allele

Allele of gene

Nthl1

Transgenic Constructs

None

Synonyms

• mNth1 -
• Nth1^-

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations