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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hprt1b-m3
hypoxanthine guanine phosphoribosyl transferase B, mutation 3
MGI:1857299
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hprt1b-m3/Hprt1b-m3 B6.129P2-Hprt1b-m3 MGI:5637726
ht2
Hprt1tm1Dwm/Hprt1b-m3 involves: 129P2/OlaHsd MGI:4462247
cx3
Hprt1b-m3/Y
Impdh2tm1Bmi/Impdh2+
involves: 129P2/OlaHsd MGI:2678480
cx4
Hprt1b-m3/Y
Impdh1tm1Bmi/Impdh1tm1Bmi
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2678469
ot5
Hprt1b-m3/Y B6.129P2-Hprt1b-m3 MGI:3625335
ot6
Hprt1b-m3/Y involves: 129P2/OlaHsd MGI:3625338


Genotype
MGI:5637726
hm1
Allelic
Composition
Hprt1b-m3/Hprt1b-m3
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 (1279 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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

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

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




Genotype
MGI:4462247
ht2
Allelic
Composition
Hprt1tm1Dwm/Hprt1b-m3
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1b-m3 mutation (4 available); any Hprt1 mutation (1279 available)
Hprt1tm1Dwm mutation (0 available); any Hprt1 mutation (1279 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2678480
cx3
Allelic
Composition
Hprt1b-m3/Y
Impdh2tm1Bmi/Impdh2+
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1b-m3 mutation (4 available); any Hprt1 mutation (1279 available)
Impdh2tm1Bmi mutation (0 available); any Impdh2 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• inhibited of proliferation due to anti-CD3+anti-CD28
• approximately 30% reduction of intracellular GTP when stimulated by anti-CD3 + anti-CD28
• T cells more sensitive than B cells to guanine synthesis
• greater sensitivity to MPA inhibitition of IMPDH
• a 20-30% reduction of T cell cytolytic activity

hematopoietic system
• inhibited of proliferation due to anti-CD3+anti-CD28
• approximately 30% reduction of intracellular GTP when stimulated by anti-CD3 + anti-CD28
• T cells more sensitive than B cells to guanine synthesis
• greater sensitivity to MPA inhibitition of IMPDH
• a 20-30% reduction of T cell cytolytic activity




Genotype
MGI:2678469
cx4
Allelic
Composition
Hprt1b-m3/Y
Impdh1tm1Bmi/Impdh1tm1Bmi
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1b-m3 mutation (4 available); any Hprt1 mutation (1279 available)
Impdh1tm1Bmi mutation (0 available); any Impdh1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28
• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin
• light but significant drop in proportion of T cells
• fewer cells in S phase
• deficient T cell cytolytic effect

immune system
• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28
• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin
• light but significant drop in proportion of T cells
• fewer cells in S phase
• deficient T cell cytolytic effect
• decreased secretion of Il-4 due to decreased GTP levels
• Il-2 levels remain more or less normal

cellular
• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28
• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin




Genotype
MGI:3625335
ot5
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 (1279 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




Genotype
MGI:3625338
ot6
Allelic
Composition
Hprt1b-m3/Y
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1b-m3 mutation (4 available); any Hprt1 mutation (1279 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit increased grooming time and trauma to the ears and flanks compared to in wild-type mice
• mice spend less time sleeping than wild-type mice





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory