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| Nomenclature |
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Symbol:
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Aprttm1Jat
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Name:
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adenine phosphoribosyl transferase;
targeted mutation 1, Jay A Tischfield
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MGI ID: |
MGI:1857278 |
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Synonyms: |
Arpt- |
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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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Kidney histopathology of a Aprttm1Jat/AprttmiJat mouse
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:33255
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A neomycin cassette was inserted into exon 3. RT-PCR analysis did not detect any transcript produced from this allele in samples derived from liver or lung of homozygous mice. APRT protein activity was not detectable in eryothrocyte lysates or in liver extracts derived from homozygous mice. (J:33255)
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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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| References |
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Original: |
J:33255
Engle SJ et al.,
"Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis."
Proc Natl Acad Sci U S A 1996 May 28;93(11):5307-12
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All: |
15 reference(s)
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Analysis Tools
