All Phenotypes Hprt1<b-m3> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Hprt1^b-m3
hypoxanthine guanine phosphoribosyl transferase B, mutation 3
MGI:1857299

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hprt1^b-m3/Hprt1^b-m3	B6.129P2-Hprt1^b-m3	MGI:5637726
ht2	Hprt1^tm1Dwm/Hprt1^b-m3	involves: 129P2/OlaHsd	MGI:4462247
cx3	Hprt1^b-m3/Y Impdh2^tm1Bmi/Impdh2⁺	involves: 129P2/OlaHsd	MGI:2678480
cx4	Hprt1^b-m3/Y Impdh1^tm1Bmi/Impdh1^tm1Bmi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2678469
ot5	Hprt1^b-m3/Y	B6.129P2-Hprt1^b-m3	MGI:3625335
ot6	Hprt1^b-m3/Y	involves: 129P2/OlaHsd	MGI:3625338

Allelic Composition	Hprt1^b-m3/Hprt1^b-m3
Genetic Background	B6.129P2-Hprt1^b-m3

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)

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

homeostasis/metabolism

decreased dopamine level ( J:17798 )

• 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

decreased brain choline acetyltransferase activity ( J:17798 )

• choline acetyltransferase activity is about 16.4% lower in the caudoputamen

decreased brain tyrosine 3-monooxygenase activity ( J:17798 )

• tyrosine hydroxylase enzyme activity is about 33.1% lower in the caudoputamen and in the cortex

nervous system

abnormal dopaminergic neuron morphology ( J:17798 )

• 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

Allelic Composition	Hprt1^tm1Dwm/Hprt1^b-m3
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)
Hprt1^tm1Dwm mutation (0 available); any Hprt1 mutation (1274 available)

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

normal phenotype

phenotypic reversion ( J:161048 )

Allelic Composition	Hprt1^b-m3/Y Impdh2^tm1Bmi/Impdh2⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)
Impdh2^tm1Bmi mutation (0 available); any Impdh2 mutation (40 available)

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

immune system

abnormal lymphocyte cell number ( J:86045 )

• 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

abnormal cytotoxic T cell physiology ( J:86045 )

• a 20-30% reduction of T cell cytolytic activity

hematopoietic system

abnormal lymphocyte cell number ( J:86045 )

• 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

abnormal cytotoxic T cell physiology ( J:86045 )

• a 20-30% reduction of T cell cytolytic activity

Allelic Composition	Hprt1^b-m3/Y Impdh1^tm1Bmi/Impdh1^tm1Bmi
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)
Impdh1^tm1Bmi mutation (0 available); any Impdh1 mutation (23 available)

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

hematopoietic system

decreased T cell proliferation ( J:85443 )

• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28

decreased splenocyte proliferation ( J:85443 )

• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin

abnormal lymphopoiesis ( J:85443 )

• light but significant drop in proportion of T cells

• fewer cells in S phase

decreased cytotoxic T cell cytolysis ( J:85443 )

• deficient T cell cytolytic effect

immune system

decreased T cell proliferation ( J:85443 )

• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28

decreased splenocyte proliferation ( J:85443 )

• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin

abnormal lymphopoiesis ( J:85443 )

• light but significant drop in proportion of T cells

• fewer cells in S phase

decreased cytotoxic T cell cytolysis ( J:85443 )

• deficient T cell cytolytic effect

decreased interleukin-4 secretion ( J:85443 )

• decreased secretion of Il-4 due to decreased GTP levels

• Il-2 levels remain more or less normal

cellular

decreased T cell proliferation ( J:85443 )

• decreased lymphocyte proliferation due to anti-CD3 + anti-CD28

decreased splenocyte proliferation ( J:85443 )

• impaired splenocyte proliferation in response to concanavalin A, lipopolysaccharide, or to PMA + ionomycin

Allelic Composition	Hprt1^b-m3/Y
Genetic Background	B6.129P2-Hprt1^b-m3

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)

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

nervous system

abnormal dopaminergic neuron morphology ( J:17798 , J:107966 )

• 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

decreased dopamine level ( J:17798 )

• 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

• 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

decreased brain choline acetyltransferase activity ( J:17798 )

• choline acetyltransferase activity is about 16.4% lower in the caudoputamen

decreased brain tyrosine 3-monooxygenase activity ( J:17798 )

• 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

Allelic Composition	Hprt1^b-m3/Y
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^b-m3 mutation (4 available); any Hprt1 mutation (1274 available)

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

behavior/neurological

increased grooming behavior ( J:3354 )

• mice exhibit increased grooming time and trauma to the ears and flanks compared to in wild-type mice

abnormal sleep pattern ( J:3354 )

• mice spend less time sleeping than wild-type mice

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