Ern2^m3Btlr

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Species

Mus musculus

Symbol

Ern2^m3Btlr

Category

allele

Allele of gene

Ern2

Transgenic Constructs

None

Synonyms

• ernie3

Description

ENU-induced G to T transversion at base pair 122,173,819 (v38) on chromosome 7, or base pair 12,408 in the GenBank genomic region NC_000073 within the acceptor splice site of intron 14. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in a 2-base pair deletion in exon 15 due to the use of a cryptic site in exon 15. The 2-base pair deletion would result in a frame-shifted protein product beginning after amino acid 525 of the protein, and premature termination after the inclusion of two aberrant amino acids.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations