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Phenotypes Associated with This Genotype
Genotype
MGI:6394002
Allelic
Composition
Hmbstm1.1Rjde/Hmbstm1.1Rjde
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmbstm1.1Rjde mutation (0 available); any Hmbs mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at near expected Mendelian ratios (22%) but only about 65% survive to adulthood
• about 90% of lethality occurs during P20-P30
• mice that survive beyond P30 are able to mate and have a normal lifespan

growth/size/body
• mice are smaller from infancy
• gap in body weight widens with age
• mice remain lean throughout life

behavior/neurological
• mice show dystonic postures of their hind legs with self-clasping when hung by their tails
• mice exhibit intension tremors by P7
• mice exhibit jerky, ataxic gait by P7
• ataxia becomes less apparent and mice are able to walk relatively normally after P30
• rotarod preference is impaired at 2 months and progressively worsens with age
• mice exhibit jerky, ataxic gait by P7
• in a 3 min open field test at P9, P12, P15, and P21, mice show reduced number of boxes traveled
• mice show delayed and impaired performance for tasks requiring postural skills and complex motor coordination indicating developmental delay of motor skills
• however, mice show normal sensory development (ear twitch and auditory startle) and acquisition of early reflexes (grasping, surface and air righting)
• the ability to rear with or without support, sit without support and jump are delayed
• extinguishing of pivoting is delayed and mice often propel themselves using only their forelimbs, with their bellies on the ground

liver/biliary system
• total heme content in the liver is approximately 93% of wild-type levels
• however, hepatic heme saturation levels of tryptophan 2,3-dioxygenase are normal

hematopoietic system
• erythrocyte porphyrin precursors are elevated, with ALA and PBG increased by 1.5 and 38-fold
• porphyrins, predominantly the uroporphrin I isomer, are elevated in erythrocytes and various tissues, including liver, kidney, and brain

homeostasis/metabolism
• erythrocyte porphyrin precursors are elevated, with ALA and PBG increased by 1.5 and 38-fold
• porphyrins, predominantly the uroporphrin I isomer, are elevated in erythrocytes and various tissues, including liver, kidney, and brain
• mice show approximately 5-8% of wild-type hydroxymethylbilane synthase activities in erythrocytes and various tissues, including liver, kidney, heart and brain
• however, mice have normal complete blood count and are not anemic
• plasma 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) are elevated about 7-fold and 134-fold, respectively
• ALA and PBG concentrations in the liver, kidney, heart, and spleen are elevated by 1.5- to 2.5-fold and 73- to 390-fold, respectively
• ALA and PBG levels are elevated in the CNS tissue, including the brain, the spinal cord, cerebral spinal fluid
• porphyrins, predominantly the uroporphrin I isomer, are elevated in various tissues, including liver, kidney, and brain
• mice are not readily inducible by porphyrinogenic factors including fasting, pregnenolone-16alpha-carbonitrile, phenobarbital, and phenobarbital with 3,5-diethoxycarbonyl-1,4-dihydro-2,4,6-trimethylpyridine
• mice exhibit porphrinuria
• urinary ALA and PBG are elevated about 5-fold and 60-fold, respectively
• urinary uroporphyrin I and III are elevated by 15- and about 50-fold, respectively
• however, coproporphyrin I and III isomers are only slightly elevated or normal

nervous system
• total heme content in the brain is approximately 80% of wild-type levels
• overall myelin volume in the brain is reduced by about 30% at 3 months of age, and when normalized for brain volume, is decreased by about 25%
• mice have barely detectable levels of MBP at P14 and do not express high levels until P15 indicating that CNS myelination is slightly delayed
• however, mice exhibit normal CNS and peripheral motor nerve histology

renal/urinary system
• mice exhibit porphrinuria
• urinary ALA and PBG are elevated about 5-fold and 60-fold, respectively
• urinary uroporphyrin I and III are elevated by 15- and about 50-fold, respectively
• however, coproporphyrin I and III isomers are only slightly elevated or normal

vision/eye

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory