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Allele : G6pdx<a-m1Neu> glucose-6-phosphate dehydrogenase X-linked; mutation 1, Neuherberg

Primary Identifier  MGI:2182739 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph Gene  G6pdx
Strain of Origin  102/El Is Recombinase  false
Is Wild Type  false
description  The original mutant was an offspring of a (102/El x C3H/El)F1 male that had received 250 mg/kg ENU mated to a tester stock female. Therefore, the mutation arose on a 102/El X Chromosome.
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Gpdx<1Neu>,
  • G6PD<def>,
  • G6PD 10168,
  • G6PD<mut>,
  • G6PD<mut>,
  • G6PD<def>,
  • G6PD 10168,
  • Gpdx<1Neu>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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1 Carried By

Trail: Allele

0 Driven By

35 Publication categories

Trail: Allele