Prkdc^m3Btlr

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Species

Mus musculus

Symbol

Prkdc^m3Btlr

Category

allele

Allele of gene

Prkdc

Transgenic Constructs

None

Synonyms

• screamer2

Description

ENU mutagenesis induced a T to C transition at base pair 15,652,552 (v38) on chromosome 16, or base pair 15,109 in the NC_000082 GenBank genomic region. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. Prkdc contains 86 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in skipping of the 100 base pair exon 7 and out-of-frame splicing from exon 6 to exon 8. This would result in deletion of amino acids 208-241, coding of 21 aberrant amino acids (amino acids 208-228), and coding of a premature stop codon after amino acid 228.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations