Als2^tm1Deng

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Species

Mus musculus

Symbol

Als2^tm1Deng

Category

allele

Allele of gene

Als2

Transgenic Constructs

None

Synonyms

• Alsin^-

Description

A neomycin resistance cassette replaced part of exon 3 and all of exon 4, eliminating expression of the endogenous short and long isoforms. RT-PCR and sequence analysis of brain tissue from homozygotes revealed a mutant mRNA was produced with exons 3 and 4 skipped, leading to a frame shift and premature stop codon in exon 5. This mutant transcript was predicted to produce a polypeptide that is only 9 amino acids long with no functional activity. No native protein was produced in homozygotes by Western blot analysis.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations