Frem1^bat

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Species

Mus musculus

Symbol

Frem1^bat

Category

allele

Allele of gene

Frem1

Transgenic Constructs

None

Synonyms

None

Description

The mutation is a T to C transition at position +2 in the splice donor of intron 25, a highly conserved residue in mammalian splice sites. RT-PCR shows complete skipping of exon 25, which led to a frame shift and the introduction of a premature stop codon 36 bp into exon 26 and therefore the truncation of the protein toward the C-terminal end of the CSPG repeat elements.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations