Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-1H mutation
(0 available);
any
Pax3 mutation
(50 available)
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embryo
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• in half of embryos on day E13.5, parts of the rostral neural tube do not close properly
• on day E13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac
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nervous system
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• in half of embryos on day E13.5, parts of the rostral neural tube do not close properly
• on day E13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac
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• incomplete closure of anterior neuropore leads to collapse of the lateral ventricles at days 13.5-14.5 of gestation
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• exencephaly involving hindbrain, midbrain, and most of forebrain is observed when rostral neural tube does not close
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Allelic Composition |
Pax3Sp-1H/Pax3Sp-1H
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Genetic Background |
involves: 101/H * C3H/HeH * C57BL/6 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp-1H mutation
(0 available);
any
Pax3 mutation
(50 available)
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mortality/aging
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• embryos die between E13.5 and E14
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cardiovascular system
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• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos
• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery
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• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli
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• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery
• this abnormal origin of the right subclavian artery also involves abnormal persistence of a segment of the right dorsal aortic root
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• the common carotid artery is abnormal in 3 out of 5 mutants with either unusual origins or persistent communicating arteries between the right common carotid artery and the subclavian arteries
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• at E12.5 and 13.5 the single outflow vessel is connected to the right ventricle through a primitive valve with four cusps
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• at E12.5 and 13.5 all embryos (N = 7) have defective septation of the truncus arteriosis
• in 6 of the 7 no septation is found
• the persistent truncus arteriosis forms the origin of the pulmonary arteries and arch of the aorta
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• at E12.5 and 13.5 the single outflow vessel is connected to the right ventricle
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endocrine/exocrine glands
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• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax
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• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was shaped abnormally, lacking one or both lateral extensions
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• at E12.5 and E13.5 the ultimobranchial bodies normally associated with the thyroid are not formed (4 out of 6)
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• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was reduced or absent
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• at E12.5 and E13.5 in 3 out of 6 mutants the thyroid was reduced or absent
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immune system
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• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax
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nervous system
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• the rachischisis is located in the lumbo-sacral region and varies in size
• the posterior neural tube is closed in all cases
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• at E12.5 mutants have only the most cranial ganglia resulting in the presence of less than half as many ganglia as in wild-types
• no ganglia are detected at the level of the lower thoracic and lumbar spine
• the ganglia that are present are smaller than normal especially the most caudal ganglia
• the most caudal ganglia present sometimes consisted of two separate aggregates, one of large ganglion cells and one of small ganglion cells and satellite cells
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• the dorsal mantle layer of the spinal cord is reduced
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craniofacial
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• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos
• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery
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• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli
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embryo
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• various abnormalities involving the abnormal regression or persistence of branchial arch arteries are found in 4 out of 5 embryos
• in 2 out of 5 embryos regression of right arch artery 4 results in the abnormal origin of the right subclavian artery
|
|
• in 3 out of 5 embryos the left arch artery 6 regresses resulting in loss of the ductus arteriosus Botalli
|
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• the rachischisis is located in the lumbo-sacral region and varies in size
• the posterior neural tube is closed in all cases
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• at E12.5 and E13.5 the ultimobranchial bodies normally associated with the thyroid are not formed (4 out of 6)
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hematopoietic system
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• at E12.5 and E13.5 in 5 out of 6 embryos the major axis of the thymus has not rotated caudad and it does not descend into the thorax
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1tm1Thbr mutation
(0 available);
any
Lbx1 mutation
(13 available)
Pax3Sp-1H mutation
(0 available);
any
Pax3 mutation
(50 available)
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nervous system
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• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone
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embryo
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• the neural tube is completely open along the rostrocaudal axis unlike in mice homozygous for either allele alone
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation
(229 available);
any
a mutation
(463 available)
Pax3Sp-1H mutation
(0 available);
any
Pax3 mutation
(50 available)
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embryo
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• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly
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nervous system
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• in half of E13.5 embryos examined, parts of the rostral neural tube are not closed properly
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• incomplete closure of anterior neuropore leads to collapse of lateral ventricles
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• noted in lateral ventricles of E16.5 fetuses
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• E16.5 fetuses do not show lamination in the cerebral cortex
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• noted at E16.5 of gestation
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• in some mutants the rostral nueral tube does not close leaving the hindbrain, midbrain, and most of the forebrain exposed
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