Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Hmbstm1Uam
Name:	hydroxymethylbilane synthase; targeted mutation 1, Urs A Meyer
MGI ID:	MGI:2182340
Synonyms:	T3
Gene:	Hmbs  Location: Chr9:44247645-44255525 bp, - strand  Genetic Position: Chr9, 24.84 cM
Alliance:	Hmbstm1Uam page

Germline Transmission:	Earliest citation of germline transmission: J:31572
Parent Cell Line:	BL/6-III (ES Cell)
Strain of Origin:	C57BL/6

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A promoterless neomycin selection cassette was inserted into exon 3, which is common to all isoforms. Hepatic enzymatic activity, the conversion of porphobilinogen to uroporphyrin, was reduced by approximately 50% in heterozygous mice. (J:31572)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hmbs Mutation:	25 strains or lines available

Original:	J:31572 Lindberg RL, et al., Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet. 1996 Feb;12(2):195-9
All:	2 reference(s)