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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax3Sp
splotch
MGI:1856173
Summary 15 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pax3Sp/Pax3Sp BR.B-Pax3Sp MGI:3690097
hm2
Pax3Sp/Pax3Sp C57BL-Pax3Sp MGI:2451326
hm3
Pax3Sp/Pax3Sp involves: 129S2/SvPas * C57BL * C57BL/6J * FVB MGI:3690109
hm4
Pax3Sp/Pax3Sp involves: C57BL MGI:2656346
ht5
Pax3Sp/Pax3+ C57BL-Pax3Sp MGI:2451329
ht6
Pax3Sp/Pax3+ involves: C3HeB * C57BL * C57BL/6J * SWV MGI:3690099
ht7
Pax3Sp/Pax3+ involves: C57BL * C57BL/6J * CBA MGI:3690101
ht8
Pax3tm1Buck/Pax3Sp involves: 129P2/OlaHsd * C57BL MGI:2687398
ht9
Pax3tm3.1(Pax7)Buck/Pax3Sp involves: 129S2/SvPas MGI:3047709
cn10
Pax3tm2.1(PAX3/FOXO1A)Buck/Pax3Sp involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6 MGI:2687400
cn11
Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+
Pax3Sp/Pax3+
Tg(Pax3-cre)1Joe/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5774472
cx12
Fignfi/Fignfi
Pax3Sp/Pax3Sp
BR.Cg-Pax3Sp Fignfi MGI:3690098
cx13
Lbx2tm1Fchn/Lbx2tm1Fchn
Pax3Sp/Pax3Sp
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3712864
cx14
Pax3Sp/Pax3Sp
Trp53tm1Tyj/Trp53+
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB MGI:3690111
cx15
Pax3Sp/Pax3Sp
Trp53tm1Tyj/Trp53tm1Tyj
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB MGI:3690112


Genotype
MGI:3690097
hm1
Allelic
Composition
Pax3Sp/Pax3Sp
Genetic
Background
BR.B-Pax3Sp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: mice die later compared to mice on a mixed genetic background that includes C57BL
• die around E18-E19

nervous system
• spina bifida aperta in the lumbosacral area

embryo
• spina bifida aperta in the lumbosacral area




Genotype
MGI:2451326
hm2
Allelic
Composition
Pax3Sp/Pax3Sp
Genetic
Background
C57BL-Pax3Sp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• 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)
• 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)
• vesicles appear as a network of small channels
• 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)
• 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
• 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

limbs/digits/tail
• distorted shape correlated to degree of rachischisis and neural overgrowth
• hematomas are frequently found in regions of tail curvature

pigmentation
• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment

cellular
• at E10 and 11, mesencephalic ventricular cells have increased mitotic index compared to wild-type

embryo
• 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)
• 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)

integument
• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment




Genotype
MGI:3690109
hm3
Allelic
Composition
Pax3Sp/Pax3Sp
Genetic
Background
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• many apoptotic neuroepithelial cells seen at the site of the neural tube defect

nervous system
• many apoptotic neuroepithelial cells seen at the site of the neural tube defect
• seen in all mice
• treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos

embryo
• seen in all mice
• treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos




Genotype
MGI:2656346
hm4
Allelic
Composition
Pax3Sp/Pax3Sp
Genetic
Background
involves: C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: mice die earlier compared to homozygotes on a congenic C57BR background
• die around E13-E14

craniofacial
• 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

muscle
• 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
• 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)
• lack myogenic cells in the hypoglossal cord at E11.5
• 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)

skeleton
• 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

nervous system
• 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
• 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)

hearing/vestibular/ear
• 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
• in mice where the neural tube defect extends to the cranial region
• at E12 cochlear coiling is poor
• present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth
• difficult to distinguish and highly abnormal
• difficult to distinguish and highly abnormal
• 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
• at E10, the endolymphatic duct is shorter than normal

embryo
• 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
• 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)

cellular
• 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




Genotype
MGI:2451329
ht5
Allelic
Composition
Pax3Sp/Pax3+
Genetic
Background
C57BL-Pax3Sp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• occasional spotting on the back and increased spotting on the tail compared to wild-type mice
• the feet are usually white

integument
• occasional spotting on the back and increased spotting on the tail compared to wild-type mice
• the feet are usually white




Genotype
MGI:3690099
ht6
Allelic
Composition
Pax3Sp/Pax3+
Genetic
Background
involves: C3HeB * C57BL * C57BL/6J * SWV
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates

embryo
• increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates




Genotype
MGI:3690101
ht7
Allelic
Composition
Pax3Sp/Pax3+
Genetic
Background
involves: C57BL * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• auditory function and ear morphology are similar to wild-type mice




Genotype
MGI:2687398
ht8
Allelic
Composition
Pax3tm1Buck/Pax3Sp
Genetic
Background
involves: 129P2/OlaHsd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Pax3tm1Buck mutation (1 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• stated to display the same phenotype as Pax3Sp mice; however, no data is provided in J:86911

nervous system
• stated to display the same phenotype as Pax3Sp mice
• stated to display the same phenotype as Pax3Sp mice
• incidence is less than the incidence of spina bifida

muscle
• stated to display the same phenotype as Pax3Sp mice including absence of limb muscles at E11.5
• stated to display the same phenotype as Pax3Sp

embryo
• stated to display the same phenotype as Pax3Sp mice

cellular




Genotype
MGI:3047709
ht9
Allelic
Composition
Pax3tm3.1(Pax7)Buck/Pax3Sp
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Pax3tm3.1(Pax7)Buck mutation (2 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• perinatal lethality probably related to impaired diaphragm development is seen

cellular
• proliferation of the muscle progenitor cells is reduced about 40% compared to wild-type

muscle
• development of the diaphragm is impaired as a result of impaired progenitor cell migration
• forelimb muscles and hindlimb palm muscles are absent and hindlimb muscles are reduced

nervous system
• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes

embryo
• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes

integument
N
• no melanocyte abnormalities are seen




Genotype
MGI:2687400
cn10
Allelic
Composition
Pax3tm2.1(PAX3/FOXO1A)Buck/Pax3Sp
Genetic
Background
involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Pax3tm2.1(PAX3/FOXO1A)Buck mutation (0 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes

embryo
• disorganized boundaries between the hypaxial somites; however, none of the defects seen in Pax3Sp homozygotes are present in these mice

muscle
• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes

skeleton
• phenotype is stated to be similar to Pax3tm2.1(PAX3/FOXO1A)Buck heterozygotes




Genotype
MGI:5774472
cn11
Allelic
Composition
Gt(ROSA)26Sortm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor+
Pax3Sp/Pax3+
Tg(Pax3-cre)1Joe/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
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 (510 available)
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Tg(Pax3-cre)1Joe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants
• lack of pigmentation in the forepaws and hindpaws
• lack of pigmentation in the distal tail

nervous system
• mice exhibit hypoganglionosis

pigmentation
• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants
• lack of pigmentation in the forepaws and hindpaws
• lack of pigmentation in the distal tail




Genotype
MGI:3690098
cx12
Allelic
Composition
Fignfi/Fignfi
Pax3Sp/Pax3Sp
Genetic
Background
BR.Cg-Pax3Sp Fignfi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fignfi mutation (2 available); any Fign mutation (21 available)
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lethality is reduced compared to mice homozygous for the Pax3 mutation alone and similar to mice homozygous for the Fign mutation alone

nervous system
• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone

embryo
• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone




Genotype
MGI:3712864
cx13
Allelic
Composition
Lbx2tm1Fchn/Lbx2tm1Fchn
Pax3Sp/Pax3Sp
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx2tm1Fchn mutation (0 available); any Lbx2 mutation (6 available)
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5
• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5
• Lbx2 expression is significantly decreased with Pax3 deficiency
• Lbx2 expression is significantly decreased with Pax3 deficiency

homeostasis/metabolism
• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5

embryo
• defects seen with Pax3 homozygosity are not affected by Lbx2-deficiency at E10.5-13.5




Genotype
MGI:3690111
cx14
Allelic
Composition
Pax3Sp/Pax3Sp
Trp53tm1Tyj/Trp53+
Genetic
Background
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (152 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• incidence is reduced to 58% compared to 100% in mice homozygous for the Pax3 mutation alone

embryo
• incidence is reduced to 58% compared to 100% in mice homozygous for the Pax3 mutation alone




Genotype
MGI:3690112
cx15
Allelic
Composition
Pax3Sp/Pax3Sp
Trp53tm1Tyj/Trp53tm1Tyj
Genetic
Background
involves: 129S2/SvPas * C57BL * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3Sp mutation (4 available); any Pax3 mutation (21 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (152 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
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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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory