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| Nomenclature |
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Symbol:
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G6pdxa-m1Neu
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Name:
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glucose-6-phosphate dehydrogenase X-linked;
mutation 1, Neuherberg
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MGI ID: |
MGI:2182739 |
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Synonyms: |
G6PD 10168, G6PDdef, G6PDmut, Gpdx1Neu |
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Gene:
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G6pdx
Location:
ChrX:74409483-74429194 bp, - strand
Genetic Position: ChrX,
38.0 cM, cytoband A2-A3
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Mutation
origin |
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Strain of Origin:
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(102/El x C3H/El)F1
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: The mutation is an A to T transversion in the 5' splice site consensus sequence at the 3' terminal of exon 1. Decreased protein levels were determined in homozygous mutant mice via Western blot analysis. This is a hypomorphic allele; in hemizygous males, heterozygous females, and homozygous females, the activity level in blood is 20%, 60%, and 15% of normal, respectively. (J:38596)
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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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Analysis Tools
