Ltbr^m1Btlr

---

Species

Mus musculus

Symbol

Ltbr^m1Btlr

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

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations