Allele/Variant

Scube1tm2.1Rbya

Species
Mus musculus
Symbol
Scube1tm2.1Rbya
Category
allele
Allele of gene
Scube1
Transgenic Constructs
None
Synonyms
  • Scube1delta
Description
A loxP site was inserted upstream of exon 15. A floxed neomycin resistance cassette was inserted downstream of exon 18. Cre-mediated recombination removed exons 15 through 18 (encoding part of the spacer region and the complete 3 cysteine-rich (CR) repeat motifs) and the selection cassette. RT-PCR analysis followed by direct sequencing showed that while exons 15-18 were successfully deleted, the COOH-terminal CUB domain was transcribed via in-frame coding in homozygous mutant platelets. Immunostaining using anti-CR specific antibody confirmed a complete absence of the 3 CR repeats but conservation of the CUB domain in mutant platelets. The soluble form of SCUBE1 protein was undetectable in mutant mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations