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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		G6pdxtm1Luz
targeted mutation 1, Lucio Luzzatto
MGI:2387672
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		G6pdxtm1Luz/G6pdx+ involves: 129S1/Sv * C57BL/6J MGI:3628922
ot2
 		G6pdxtm1Luz/Y involves: 129S1/Sv * C57BL/6J MGI:3628921


Genotype
MGI:3628922
ht1
Allelic
Composition		 G6pdxtm1Luz/G6pdx+
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxtm1Luz mutation (0 available); any G6pdx mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

embryo
increased allantois apoptosis ( J:78546 )
• although embryos exhibit fusion of the allantois with the chrion by E8.5, there is a significant increase in apoptotic cells
abnormal paraxial mesoderm morphology ( J:78546 )
• the neuroepithelial mesenchyme has sparse cells
abnormal embryonic neuroepithelium morphology ( J:78546 )
• the neuroepithelium has sparse cells
embryo tissue necrosis ( J:78546 )
• see many necrotic cells in the neuroepithelium of the brain by E11.5 and lysis of head and trunk mesenchyme tissue
abnormal chorion morphology ( J:78546 )
• at E8.5, the chorion is organized as a chorionic plate and lacks fetal blood vessels
abnormal spongiotrophoblast layer morphology ( J:78546 )
• by E9.5, the spongiotrophoblast layer remains significantly underdeveloped
abnormal placenta labyrinth morphology ( J:78546 )
• by E9.5, the labyrinthine layer remains significantly underdeveloped
small placenta ( J:78546 )
• by E9.5, the placenta is less than half the normal size

nervous system
abnormal embryonic neuroepithelium morphology ( J:78546 )
• the neuroepithelium has sparse cells

cardiovascular system
abnormal blood vessel morphology ( J:78546 )
• embryos exhibit dilated blood vessels
abnormal heart morphology ( J:78546 )
• exhibit apoptotic cells in the heart
hemorrhage ( J:78546 )
• exhibit widespread hemorrhages in all organs by E11.5

cellular
increased allantois apoptosis ( J:78546 )
• although embryos exhibit fusion of the allantois with the chrion by E8.5, there is a significant increase in apoptotic cells
paternal imprinting ( J:78546 )
• all defects are seen in F2 heterozygotes that receive the mutant allele from the mother, while all F1 heterozygotes that receive the mutant allele from the father are normal




Genotype
MGI:3628921
ot2
Allelic
Composition		 G6pdxtm1Luz/Y
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
G6pdxtm1Luz mutation (0 available); any G6pdx mutation (8 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

growth/size/body
decreased embryo size ( J:78546 )
• smaller at E7.5 even though embyros continue to develop, producing mesoderm and head folds
abnormal head morphology ( J:78546 )
• form an aberrant head

embryo
increased embryonic tissue cell apoptosis ( J:78546 )
• exhibit an increase in cell death in E8.5 embryos
increased allantois apoptosis ( J:78546 )
• although embryos exhibit fusion of the allantois with the chrion by E8.5, there is a significant increase in apoptotic cells
abnormal embryo turning ( J:78546 )
• embryos fail to turn although they initiate organogenesis
embryonic growth arrest ( J:78546 )
• abruptly stop developing at E8.5, although they initiate erythropoiesis and progress to angiogenesis
decreased embryo size ( J:78546 )
• smaller at E7.5 even though embyros continue to develop, producing mesoderm and head folds
abnormal embryonic tissue morphology ( J:78546 )
• embryonic tissues contain sparse cells
abnormal embryonic neuroepithelium morphology ( J:78546 )
• the neuroepithelium is thin and wavy
abnormal somite development ( J:78546 )
• typical somites are not identified at E8.5
abnormal chorion morphology ( J:78546 )
• at E8.5, the chorion is organized as a chorionic plate and lacks fetal blood vessels
small placenta ( J:78546 )
• by E9.5, the placenta is less than half the normal size

cardiovascular system
dilated vasculature ( J:78546 )
• large regions within the embryo are occupied by dilated blood vessels
dilated heart ( J:78546 )
• exhibit a distended heart by E8.5

cellular
increased embryonic tissue cell apoptosis ( J:78546 )
• exhibit an increase in cell death in E8.5 embryos
increased allantois apoptosis ( J:78546 )
• although embryos exhibit fusion of the allantois with the chrion by E8.5, there is a significant increase in apoptotic cells

nervous system
abnormal embryonic neuroepithelium morphology ( J:78546 )
• the neuroepithelium is thin and wavy




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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory