Mutant mice have no HPRT detectable by Western blot analysis and no detectable HPRT enzyme activity in brain homogenates. They appear to have normal brain purine content, but de novo purine synthesis is accelerated four to five-fold. The Hprtb-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt are activated during early embryonic development. However, the null mutant does not show the characteristics of Lesch-Nyhan disease.
Dr. Ted Friedman, UCSD School of Medicine
Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Hprt | hypoxanthine guanine phosphoribosyl transferase |
HPRT - embryonic stem cells were obtained by selecting for spontaneous mutation by incubation in medium containing 6-thioguanine. HPRT - males have no overt phenotype of abnormal behavior. The mutation is due to a large deletion in the Hprt gene. Mutant mice have no HPRT detectable by Western blot analysis and no detectable HPRT enzyme activity in brain homogenates. They appear to have normal brain purine content, but de novo purine synthesis is accelerated four to five-fold. The Hprtb-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt are activated during early embryonic development. Either administration of amphetamine or inhibition of adenine phosphoribosyltransferase (APRT) activity stimulates locomotor and stereotypic behaviors in HPRT-deficient mice. However, the null mutant for both Hprt and Aprt does not show the characteristics of Lesch-Nyhan disease.
HPRT - embryonic stem cells, derived from the E14TG2a ES cell line, were obtained by selecting for spontaneous mutation by incubation in medium containing 6-thioguanine. Selected ES stem cells were implanted into (C57BL/6Lac X CBA/CaLac) F1 host blastula, and injected blastocysts were fostered in (C57BL/6JLac X CBA/CaLac) F1 females. Germline transmitting chimeras were then crossed with BALB/c mice, and the line was subsequently backcrossed to C57BL/6J for 18 generations.
Allele Name | hypoxanthine guanine phosphoribosyl transferase B, mutation 3 |
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Allele Type | Spontaneous |
Allele Synonym(s) | Hprt- |
Gene Symbol and Name | Hprt, hypoxanthine guanine phosphoribosyl transferase |
Gene Synonym(s) | |
Strain of Origin | 129P2/OlaHsd |
Chromosome | X |
General Note | HPRT- embryonic stem cells were obtained by selecting for spontaneous mutation by incubation in medium containing 6-thioguanine. HPRT- males have no overt phenotype of abnormal behavior (J:15483). The mutation is due to a large deletion in the Hprt gene. In situ hybridization studies showed HPRT mRNA in high levels in most neurons, but not in glial cells, in normal mice. No HPRT mRNA was detected in the brains of male mice carrying this deletion (J:2058). Mutant mice have no HPRT detectable by Western blot analysis and no detectable HPRT enzyme activity in brain homogenates. They appear to have normal brain purine content, but de novo purine synthesis is accelerated four- to fivefold (J:11842). The Hprtb-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt are activated during early embryonic development (J:2389). Either administration of amphetamine (J:1847) or inhibition of adenine phosphoribosyltransferase (APRT) activity (J:4123) stimulates locomotor and stereotypic behaviors in HPRT-deficient mice. However, the null mutant for both Hprt and Aprt does not show the characteristics of Lesch-Nyhan disease (J:35822).Cells from mice hemizygous or homozygous for this mutation are HPRT-deficient and resistant to the drug 6-thioguanine (6TG). |
Molecular Note | The allele contains a ~55 kb deletion spanning the promoter and first 2 exons. Subsequent direct sequence comparison with wild type DNA defined the exact breakpoints of the deletion, which lies 415 bp after the 3' end of exon 2, and determined the deletion size to be 36 kb. |
Mutations Made By | Elizabeth Simpson, Centre for Molecular Medicine & Therapeutics, University of British Columbia |
When maintaining a live colony, these mice can be bred as homozygous females and hemizygous males (the gene is X linked). The expected coat color from breeding is black.
When using the B6.129P2-Hprtb-m3/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #002171 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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X linked - Heterozygous Females and Wild-type Males for Hprt1<b-m3> |
Frozen Mouse Embryo | B6.129P2-Hprt<b-m3>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129P2-Hprt<b-m3>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129P2-Hprt<b-m3>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129P2-Hprt<b-m3>/J Frozen Embryo | $3373.50 |
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