Allele/Variant

Serpina3kem1(IMPC)J

Species
Mus musculus
Symbol
Serpina3kem1(IMPC)J
Category
allele
Allele of gene
Serpina3k
Transgenic Constructs
None
Synonyms
  • KOSA3
Description
This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences CTCTTCCTATCCATGCCTAG, GGTCCCGAGAGTGTTTACAG, GCACCTACAATACACTACAG and GCAACATACAGTACACTGCA, which resulted in a 580 bp deletion beginning at Chromosome 12 positive strand position 104,343,940 bp and ending after 104,344,519 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000256671 (exon 4) and 426 bp of flanking intronic sequence including the splice acceptor and donor. In addition, there is a 22 bp deletion 21 bp after the exon deletion that will not alter the results of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 304 and early truncation 41 amino acids later. Western blot analysis confirmed the complete absence of protein expression in kidney, heart, liver, lung and brain tissue from homozygous mutant mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations