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Phenotypes Associated with This Genotype
Genotype
MGI:3625335
Allelic
Composition
Hprt1b-m3/Y
Genetic
Background
B6.129P2-Hprt1b-m3
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1b-m3 mutation (4 available); any Hprt1 mutation (1272 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• quantitative autoradiographic studies show reductions in the binding of 3H-BTCP to dopamine uptake sites in the caudoputamen of the forebrain but not in the accumbens or olfactory tubercle, suggesting reduced dopamine fiber density in the basal ganglia (J:17798)
• dopaminergic neurons from E14 mice differentiate in culture, but dendrite outgrowth is decelerated and the average dendrite length per neuron is lower than in control neurons; the difference in length increased over time in culture with the deficit being 15% after 2 days in culture to 32% at day 8 (J:107966)

homeostasis/metabolism
• mice show a 40% difference in the levels of dopamine in whole-brain extracts after 30 days of age compared to controls
• reduced levels of dopamine in the brain are associated with normal levels of the precursor tyrosine but decreased tyrosine hydroxylation
• 47.5%, 23.7%, 19.9%, and 15.5% reduction in dopamine levels in the caudoputamen, diencephalon, midbrain, and brainstem, respectively
• 26.2%, 16.5%, and 18.3% reduction in the levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) in the caudoputamen, diencephalon, and midbrain, respectively, but not in other regions
• 16.4%, 31.9%, 23.1% and 10.8% reduction in the levels of the dopamine metabolite homovanillic acid in the diencephalon, midbrain, cortex, and brainstem, respectively
• however, levels of norepinephrine and 5-HT are normal and normal levels of dopamine are seen in the accumbens, olfactory bulbs, and cortex
• choline acetyltransferase activity is about 16.4% lower in the caudoputamen
• tyrosine hydroxylase enzyme activity is about 33.1% lower in the caudoputamen and in the cortex

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Lesch-Nyhan syndrome DOID:1919 OMIM:300322
J:17798 , J:107966


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
03/12/2024
MGI 6.23
The Jackson Laboratory