Allele/Variant

Adamts16em2(IMPC)H

Species
Mus musculus
Symbol
Adamts16em2(IMPC)H
Category
allele
Allele of gene
Adamts16
Transgenic Constructs
None
Synonyms
None
Description
This allele from IMPC was generated at Medical Research Council Harwell by injecting CAS9 RNA and 4 guide sequences which resulted in a 906nt deletion. The allele results in a complete loss of exon 5, which encodes part of the highly conserved, zinc-dependent metalloprotease domain; splicing from exon 4 to exon 6 results in a predicted frame-shift and early chain termination due to a premature stop codon. qRT-PCR analysis showed a severe reduction of expression in homozygous mutant kidneys.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations