Hmbs^tm1.1Rjde

---

Species

Mus musculus

Symbol

Hmbs^tm1.1Rjde

Category

allele

Allele of gene

Hmbs

Transgenic Constructs

None

Synonyms

• R167Q

Description

A G to A change at position 500 resulting in an arginine to glutamine substitution at amino acid 167 (R167Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations