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| Nomenclature |
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Symbol:
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Hprt1b-m3
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Name:
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hypoxanthine guanine phosphoribosyl transferase 1;
hypoxanthine guanine phosphoribosyl transferase B, mutation 3
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MGI ID: |
MGI:1857299 |
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Gene:
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Hprt1
Location:
ChrX:50341314-50374836 bp, + strand
Genetic Position: ChrX,
17.0 cM, cytoband A6
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:15485
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Deletion |
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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. (J:41459, J:144244) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
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expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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Notes |
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 Hprt1 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 Hprt1b-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt1 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 Hprt1 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).
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| References |
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Original: |
J:15483
Hooper M et al.,
"HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells."
Nature 1987 Mar 19-25;326(6110):292-5
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All: |
20 reference(s)
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