Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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mortality/aging
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• Background Sensitivity: mice die later compared to mice on a mixed genetic background that includes C57BL
• die around E18-E19
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nervous system
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• spina bifida aperta in the lumbosacral area
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embryo
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• spina bifida aperta in the lumbosacral area
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growth/size/body
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• spina bifida aperta in the lumbosacral area
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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mortality/aging
nervous system
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• ventricular cells in the upper lumbar neural tube and lower lumbar and sacral neural groove contain many gap junctional vesicles that are rarely seen in wild-type or heterozygous mice
(J:6190)
• overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age
(J:13016)
• neural overgrowth occurs laterad from the mid-dorsal line of the neural folds
(J:13016)
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• open neural folds in the hindbrain region
(J:5443)
• at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline
(J:13016)
• at E10 - E12.5, the extent to which the neural fold are open is highly variable ranging from just a small area in the lumbo-sacral region up to from the lumbo-sacral region to the tip of the tail
(J:13016)
• the extent of the area of open neural tube tends to increase in proportion to growth of the embryo
(J:13016)
• open neural folds generally limited to the hindbrain region are seen in about 56% of mice at E10, these are always associated with overgrowth of neural tissue
(J:13016)
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• vesicles appear as a network of small channels
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• at E10 and E11, mesencephalic ventricular cells display increased generation time, increased mitotic index, and prolonged mitosis, S phase, and G1
(J:5443)
• the lumen in the mesencephalic region is greatly reduced and obscured by neural tissue
(J:13016)
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• at E10 or later, the lumen of the brain is highly distorted and partially collapsed or obliterated by the excessive overgrowth of neural tissue
• the lumen in the region of the myelencephalon and rhombencephalon are most sevely affected
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• in the region of the anterior limb buds spinal ganglia are absent or greatly reduced in size, disorganized, and abnormally located on the dorsal part of the neural tube
• the lumbo-sacral region spinal ganglia are usually absent
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limbs/digits/tail
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• distorted shape correlated to degree of rachischisis and neural overgrowth
• hematomas are frequently found in regions of tail curvature
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pigmentation
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• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
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• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment
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cellular
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• at E10 and 11, mesencephalic ventricular cells have increased mitotic index compared to wild-type
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embryo
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• ventricular cells in the upper lumbar neural tube and lower lumbar and sacral neural groove contain many gap junctional vesicles that are rarely seen in wild-type or heterozygous mice
(J:6190)
• overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age
(J:13016)
• neural overgrowth occurs laterad from the mid-dorsal line of the neural folds
(J:13016)
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• open neural folds in the hindbrain region
(J:5443)
• at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline
(J:13016)
• at E10 - E12.5, the extent to which the neural fold are open is highly variable ranging from just a small area in the lumbo-sacral region up to from the lumbo-sacral region to the tip of the tail
(J:13016)
• the extent of the area of open neural tube tends to increase in proportion to growth of the embryo
(J:13016)
• open neural folds generally limited to the hindbrain region are seen in about 56% of mice at E10, these are always associated with overgrowth of neural tissue
(J:13016)
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integument
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• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
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• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment
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Allelic
Composition |
Pax3Sp/Pax3Sp
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Genetic
Background |
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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nervous system
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• many apoptotic neuroepithelial cells seen at the site of the neural tube defect
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• seen in all mice
• treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos
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embryo
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• seen in all mice
• treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos
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cellular
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• many apoptotic neuroepithelial cells seen at the site of the neural tube defect
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Allelic
Composition |
Pax3Sp/Pax3Sp
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Genetic
Background |
involves: C57BL |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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mortality/aging
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• Background Sensitivity: mice die earlier compared to homozygotes on a congenic C57BR background
• die around E13-E14
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craniofacial
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• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal
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muscle
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• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
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• at E10.5 Pax3 expressing cells are absent from the forelimb and hindlimb buds
(J:18227)
• at E12.5 expression of muscle specific markers myogenin and acetylcholinesterase are absent from the forelimb buds and expression of acetylcholinesterase is also absent from the hindlimb buds
(J:18227)
• limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin)
(J:32016)
• however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation
(J:32016)
• lack myogenic cells in the forming limb buds and hypoglossal cord at E11.5
(J:112275)
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• lack myogenic cells in the hypoglossal cord at E11.5
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• at E9.25, premature termination of the dermamyotome at the same level as the ventral lip of the axial myotome with absence of any epithelial structure in the ventral portion
(J:32016)
• foreshortening of the epaxial domain and complete loss of the hypaxial domain of the dermomyotome at E10.5
(J:112275)
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skeleton
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• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal
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nervous system
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• 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region
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• treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation
(J:110617)
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hearing/vestibular/ear
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• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal
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• in mice where the neural tube defect extends to the cranial region
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• at E12 cochlear coiling is poor
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• present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth
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• difficult to distinguish and highly abnormal
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• difficult to distinguish and highly abnormal
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• at E10, the origin of endolymphatic duct is shifted backwards and upwards and the duct is shorter and conical in shape
• at E11 the duct extends backwards and outwards rather than vertically upwards as in wild-type mice
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• at E10, the endolymphatic duct is shorter than normal
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embryo
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• 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region
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• treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation
(J:110617)
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cellular
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• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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pigmentation
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• occasional spotting on the back and increased spotting on the tail compared to wild-type mice
• the feet are usually white
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integument
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• occasional spotting on the back and increased spotting on the tail compared to wild-type mice
• the feet are usually white
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Allelic
Composition |
Pax3Sp/Pax3+
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Genetic
Background |
involves: C3HeB * C57BL * C57BL/6J * SWV |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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nervous system
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• increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates
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embryo
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• increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates
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Allelic
Composition |
Pax3Sp/Pax3+
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Genetic
Background |
involves: C57BL * C57BL/6J * CBA |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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hearing/vestibular/ear
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N |
• auditory function and ear morphology are similar to wild-type mice
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Allelic
Composition |
Pax3tm1Buck/Pax3Sp
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Genetic
Background |
involves: 129P2/OlaHsd * C57BL |
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mortality/aging
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• stated to display the same phenotype as Pax3Sp mice; however, no data is provided in J:86911
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nervous system
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• stated to display the same phenotype as Pax3Sp mice
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• stated to display the same phenotype as Pax3Sp mice
• incidence is less than the incidence of spina bifida
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muscle
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• stated to display the same phenotype as Pax3Sp mice including absence of limb muscles at E11.5
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• stated to display the same phenotype as Pax3Sp
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embryo
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• stated to display the same phenotype as Pax3Sp mice
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cellular
mortality/aging
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• perinatal lethality probably related to impaired diaphragm development is seen
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cellular
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• proliferation of the muscle progenitor cells is reduced about 40% compared to wild-type
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muscle
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• development of the diaphragm is impaired as a result of impaired progenitor cell migration
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• forelimb muscles and hindlimb palm muscles are absent and hindlimb muscles are reduced
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nervous system
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• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes
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embryo
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• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes
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integument
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N |
• no melanocyte abnormalities are seen
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
Pax3tm2.1(PAX3/FOXO1A)Buck mutation
(0 available);
any
Pax3 mutation
(50 available)
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mortality/aging
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• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes
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embryo
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• disorganized boundaries between the hypaxial somites; however, none of the defects seen in Pax3Sp homozygotes are present in these mice
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muscle
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• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes
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skeleton
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• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln mutation
(0 available);
any
Gt(ROSA)26Sor mutation
(944 available)
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
Tg(Pax3-cre)1Joe mutation
(0 available)
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integument
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• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants
• lack of pigmentation in the forepaws and hindpaws
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• lack of pigmentation in the distal tail
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nervous system
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• mice exhibit hypoganglionosis
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pigmentation
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• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants
• lack of pigmentation in the forepaws and hindpaws
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• lack of pigmentation in the distal tail
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mortality/aging
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• lethality is reduced compared to mice homozygous for the Pax3 mutation alone and similar to mice homozygous for the Fign mutation alone
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nervous system
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• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone
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embryo
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• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx2tm1Fchn mutation
(0 available);
any
Lbx2 mutation
(10 available)
Pax3Sp mutation
(4 available);
any
Pax3 mutation
(50 available)
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nervous system
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• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5
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• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5
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• Lbx2 expression is significantly decreased with Pax3 deficiency
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• Lbx2 expression is significantly decreased with Pax3 deficiency
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homeostasis/metabolism
embryo
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• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5
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nervous system
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N |
• all mice have closed neural tubes and no neuroepithelial apoptosis is seen, unlike mice homozygous for the Pax3 mutation alone
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Allelic
Composition |
Pax3Sp/Pax3Sp
Trp53tm1Tyj/Trp53+
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Genetic
Background |
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB |
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nervous system
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• incidence is reduced to 58% compared to 100% in mice homozygous for the Pax3 mutation alone
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embryo
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• incidence is reduced to 58% compared to 100% in mice homozygous for the Pax3 mutation alone
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Analysis Tools