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| Nomenclature |
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Symbol:
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Aprttm1Dwm
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Name:
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adenine phosphoribosyl transferase;
targeted mutation 1, David W Melton
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MGI ID: |
MGI:2429961 |
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Gene:
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Aprt
Location:
Chr8:122574637-122576907 bp, - strand
Genetic Position: Chr8,
71.91 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:38450
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Sequence encompassing exons 1 and 2 was replaced with a neomycin selection cassette. The incorporation of labeled adenine in homozygous mutant mice was 0.5% of the wild-type level. (J:38450)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Aprt Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:38450
Redhead NJ et al.,
"Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis."
Hum Gene Ther 1996 Aug 20;7(13):1491-502
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All: |
1 reference(s)
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Analysis Tools
