Phenotypes Associated with This Genotype

Genotype
MGI:3841015

• Allelic Composition: Hmbs^tm2Uam/Hmbs^tm3Uam
• Genetic Background: C57BL/6-Hmbs^tm2Uam/Hmbs^tm3Uam

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

porphyria ( J:31572 , J:275245 )

• massive overproduction of aminolevulinic acid in response to phenobarbital treatment (J:31572)

• plasma 5-aminolevulinic acid (ALA) concentrations are increased about 2-fold (J:275245)

• plasma porphobilinogen (PBG) concentrations are increased 6- to 7-fold (J:275245)

• mice are not readily inducible by the porphyrinogenic factors fasting and pregnenolone-16alpha-carbonitrile but are readily inducible by the porphyrinogenic factors phenobarbital, and phenobarbital with 3,5-diethoxycarbonyl-1,4-dihydro-2,4,6-trimethylpyridine (J:275245)

abnormal urine homeostasis ( J:31572 , J:275245 )

• increased urinary excretion of aminolevulinic acid in response to phenobarbital treatment (J:31572)

• slightly increased excretion of uroporphyrins (J:31572)

• urinary ALA concentrations are increased about 2-fold (J:275245)

• urinary PBG concentrations are increased 6- to 7-fold (J:275245)

• urinary uroporphyrin I and III are increased by 16- and 22-fold (J:275245)

• urinary coproporphyrin I and III are increased about 4- and 2-fold (J:275245)

erythruria ( J:31572 )

• reddish colored urine

liver/biliary system

abnormal liver morphology ( J:275245 )

• total heme content in the liver is approximately 57% of wild-type

behavior/neurological

ataxia ( J:31572 )

abnormal locomotor activation ( J:31572 )

• slower movements

short stride length ( J:31572 )

• shorter left and right stride length

nervous system

abnormal brain morphology ( J:275245 )

• total heme content in the brain is approximately 70% of wild-type

abnormal axon morphology ( J:31572 )

• axonal neuropathy in aged mice

muscle

skeletal muscle degeneration ( J:31572 )

• chronic degeneration of hindlimb muscle in aged mice

renal/urinary system

abnormal urine homeostasis ( J:31572 , J:275245 )

• increased urinary excretion of aminolevulinic acid in response to phenobarbital treatment (J:31572)

• slightly increased excretion of uroporphyrins (J:31572)

• urinary ALA concentrations are increased about 2-fold (J:275245)

• urinary PBG concentrations are increased 6- to 7-fold (J:275245)

• urinary uroporphyrin I and III are increased by 16- and 22-fold (J:275245)

• urinary coproporphyrin I and III are increased about 4- and 2-fold (J:275245)

erythruria ( J:31572 )

• reddish colored urine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute intermittent porphyria		DOID:3890	OMIM:176000	J:31572 , J:275245