Asph^tm1Jed

---

Species

Mus musculus

Symbol

Asph^tm1Jed

Category

allele

Allele of gene

Asph

Transgenic Constructs

None

Synonyms

• BAH-

Description

Replacement of exons 22-23 with a PGK-neo cassette via homologous recombination specifically disrupted the aspartyl beta-hydroxylase activity of one of 3 different protein products from this gene. Western blot of various tissues from homozygous mutant animals did not detect protein product and real-time PCR assay did not detect transcripts containing exons 22 and 23. In vitro and in vivo enzyme assays demonstrated protein extracts from homozygous mutant animals lacked aspartyl beta-hydroxylase activity.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations