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Phenotypes Associated with This Genotype
Genotype
MGI:3841015
Allelic
Composition
Hmbstm2Uam/Hmbstm3Uam
Genetic
Background
C57BL/6-Hmbstm2Uam/Hmbstm3Uam
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmbstm2Uam mutation (0 available); any Hmbs mutation (11 available)
Hmbstm3Uam mutation (0 available); any Hmbs mutation (11 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Porphyria, Acute Intermittent; AIP 176000 J:31572


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory