Phenotypes associated with this allele
neoplasm
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• tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx
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• increase in the rate of osteosarcoma initiation compared to mutant mice wild-type for Atrx
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skeleton
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• tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx
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neoplasm
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• tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx
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• increase in the rate of osteosarcoma initiation compared to mutant mice wild-type for Atrx
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skeleton
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• tumor formation occurs at an earlier age compared to mutant mice wild-type for Atrx
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrxtm1Rjg mutation
(0 available);
any
Atrx mutation
(78 available)
Tg(Gata1-cre)1Sho mutation
(2 available)
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mortality/aging
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• fewer than expected found at E9.5; however, unlike hemizygous males some females do survive
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reproductive system
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• some surviving females can reproduce
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behavior/neurological
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• surviving females display mild behavioral abnormalities
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cellular
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• in surviving females expression of the paternal wild-type allele is seen in extraembryonic tissues; however, random X inactivation in the embryo is normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrxtm1Rjg mutation
(0 available);
any
Atrx mutation
(78 available)
Tg(Gata1-cre)1Sho mutation
(2 available)
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mortality/aging
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• the expected number of males are detected at E8.5 but fewer than expected are found at E9.5 and no males are found after E9.5
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embryo
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• dramatic reduction in trophectoderm surrounding the embryo at E8.5
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• reduced numbers of terminally differentiated trophoblast giant cells at E7.5 and E8.5
• defect is in formation of secondary trophoblast cells; however, development of primary cells is similar to wild-type
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• abnormally shaped at E8.5
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• reduced in size at E8.5
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• highly disorganized; however overall morphology of the embryonic tissues is similar to wild-type
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growth/size/body
cellular
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• significant decrease in the number of mitotic cells at E7.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrxtm1Rjg mutation
(0 available);
any
Atrx mutation
(78 available)
Tg(Pax6-cre,GFP)2Pgr mutation
(1 available)
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vision/eye
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• pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network
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• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
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• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
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• cellularity is reduced 15% while the number of ganglion cells is normal
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• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal
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• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice
• however, the a-wave is normal
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nervous system
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• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
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• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrxtm1Rjg mutation
(0 available);
any
Atrx mutation
(78 available)
Tg(Nes-cre)2472Pick mutation
(0 available)
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mortality/aging
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• reduced postnatal survival similar to Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm
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growth/size/body
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• mutants are smaller at birth
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nervous system
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• not as severe as in Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm
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• the frontal cortex is reduced in size especially in the caudal-medial cortex similar to Atrx hemizygotes that are heterozygous for Foxg1tm1(cre)Skm but the severity of loss is decreased
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrxtm1Rjg mutation
(0 available);
any
Atrx mutation
(78 available)
Foxg1tm1(cre)Skm mutation
(2 available);
any
Foxg1 mutation
(28 available)
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mortality/aging
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• mutant males die within 24 - 48 hours of birth, with only 1 male surviving to 24 days of age
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behavior/neurological
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• mutant males lack milk in their stomachs
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• mutant males do not suckle well
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growth/size/body
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• mutants are smaller at birth
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nervous system
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• the dentate gyrus is replaced by a mass of disorganized cells
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• reduced numbers of CA1 and CA3 pyramidal neurons are seen
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• the subiculum and hippocampus are reduced in size
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• the frontal cortex is reduced in size especially in the caudal-medial cortex and cell density is decreased in the cortex as a result of increased cell death and not a change in proliferation
• cell numbers in the cortical plate are reduced by 20-30%
• cell loss is not seen at E13.5 but is significant at E15.5
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Analysis Tools