Allele/Variant

Ltbrm1Btlr

Species
Mus musculus
Symbol
Ltbrm1Btlr
Category
allele
Allele of gene
Ltbr
Transgenic Constructs
None
Synonyms
  • kama
Description
ENU mutagenesis induced a T-to-G transversion at base pair 125,313,388 on chromosome 6 (GRCm38), corresponding to base pair 483 in GenBank genomic region NC_000072. The mutation is located in the donor splice site of intron 2, two nucleotides from the previous exon; the transcript contains 10 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that aberrant splicing may result in the skipping of the 97 base pair exon 2 and splicing from exon 1 to exon 3. The aberrant splicing would lead to a deletion of 32 amino acids and a frameshift; the mis-spliced protein would end prematurely in exon 7.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
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