Mouse Genome Informatics
ht
    Hmbstm2Uam/Hmbstm3Uam
C57BL/6-Hmbstm2Uam/Hmbstm3Uam
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• massive overproduction of aminolevulinic acid in response to phenobarbital treatment
• increased urinary excretion of aminolevulinic acid in response to phenobarbital treatment
• slightly increased excretion of uroporphyrins
• reddish colored urine

behavior/neurological
• slower movements
• shorter left and right stride length

nervous system
• axonal neuropathy in aged mice

muscle
• chronic degeneration of hindlimb muscle in aged mice

renal/urinary system
• increased urinary excretion of aminolevulinic acid in response to phenobarbital treatment
• slightly increased excretion of uroporphyrins
• reddish colored urine

Mouse Models of Human Disease
OMIM IDRef(s)
Porphyria, Acute Intermittent 176000 J:31572