Phenotypes associated with this allele

• Allele Symbol: Pax3^Sp
• Allele Name: splotch
• Allele ID: MGI:1856173
• Summary: 15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^Sp/Pax3^Sp	BR.B-Pax3^Sp	MGI:3690097
hm2	Pax3^Sp/Pax3^Sp	C57BL-Pax3^Sp	MGI:2451326
hm3	Pax3^Sp/Pax3^Sp	involves: 129S2/SvPas * C57BL * C57BL/6J * FVB	MGI:3690109
hm4	Pax3^Sp/Pax3^Sp	involves: C57BL	MGI:2656346
ht5	Pax3^Sp/Pax3^+	C57BL-Pax3^Sp	MGI:2451329
ht6	Pax3^Sp/Pax3^+	involves: C3HeB * C57BL * C57BL/6J * SWV	MGI:3690099
ht7	Pax3^Sp/Pax3^+	involves: C57BL * C57BL/6J * CBA	MGI:3690101
ht8	Pax3^tm1Buck/Pax3^Sp	involves: 129P2/OlaHsd * C57BL	MGI:2687398
ht9	Pax3^tm3.1(Pax7)Buck/Pax3^Sp	involves: 129S2/SvPas	MGI:3047709
cn10	Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^Sp	involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6	MGI:2687400
cn11	Gt(ROSA)26Sor^tm1(en/Cdx1,-EGFP)Npln/Gt(ROSA)26Sor^+ Pax3^Sp/Pax3^+ Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5774472
cx12	Fign^fi/Fign^fi Pax3^Sp/Pax3^Sp	BR.Cg-Pax3^Sp Fign^fi	MGI:3690098
cx13	Lbx2^tm1Fchn/Lbx2^tm1Fchn Pax3^Sp/Pax3^Sp	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712864
cx14	Pax3^Sp/Pax3^Sp Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL * C57BL/6J * FVB	MGI:3690112
cx15	Pax3^Sp/Pax3^Sp Trp53^tm1Tyj/Trp53^+	involves: 129S2/SvPas * C57BL * C57BL/6J * FVB	MGI:3690111

Genotype
MGI:3690097

hm1

• Allelic Composition: Pax3^Sp/Pax3^Sp
• Genetic Background: BR.B-Pax3^Sp

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:11996 )

• Background Sensitivity: mice die later compared to mice on a mixed genetic background that includes C57BL

• die around E18-E19

nervous system

spina bifida cystica ( J:11996 )

• spina bifida aperta in the lumbosacral area

embryo

spina bifida cystica ( J:11996 )

• spina bifida aperta in the lumbosacral area

growth/size/body

spina bifida cystica ( J:11996 )

• spina bifida aperta in the lumbosacral area

Genotype
MGI:2451326

hm2

• Allelic Composition: Pax3^Sp/Pax3^Sp
• Genetic Background: C57BL-Pax3^Sp

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:12957 )

• die around E14

nervous system

abnormal neural tube morphology ( J:6190 , J:13016 )

• 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 tube ( J:5443 , 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)

spina bifida ( J:12957 )

small embryonic telencephalon ( J:13016 )

• vesicles appear as a network of small channels

abnormal midbrain development ( J:5443 , J:13016 )

• 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)

abnormal brain ventricle morphology ( 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

abnormal dorsal root ganglion morphology ( J:13016 )

• 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

abnormal tail morphology ( J:13016 )

• distorted shape correlated to degree of rachischisis and neural overgrowth

• hematomas are frequently found in regions of tail curvature

kinked tail ( J:12957 )

pigmentation

absent coat pigmentation ( J:13016 )

• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment

absent skin pigmentation ( J:13016 )

• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment

cellular

increased mitotic index ( J:13016 )

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

embryo

abnormal neural tube morphology ( J:6190 , J:13016 )

• 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 tube ( J:5443 , 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)

spina bifida ( J:12957 )

integument

absent coat pigmentation ( J:13016 )

• embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment

absent skin pigmentation ( J:13016 )

• embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment

Genotype
MGI:3690109

hm3

• Allelic Composition: Pax3^Sp/Pax3^Sp
• Genetic Background: involves: 129S2/SvPas * C57BL * C57BL/6J * FVB

nervous system

increased embryonic neuroepithelium apoptosis ( J:75569 )

• many apoptotic neuroepithelial cells seen at the site of the neural tube defect

open neural tube ( J:75569 )

• seen in all mice

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

embryo

open neural tube ( J:75569 )

• seen in all mice

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

cellular

increased embryonic neuroepithelium apoptosis ( J:75569 )

• many apoptotic neuroepithelial cells seen at the site of the neural tube defect

Genotype
MGI:2656346

hm4

• Allelic Composition: Pax3^Sp/Pax3^Sp
• Genetic Background: involves: C57BL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:11996 )

• Background Sensitivity: mice die earlier compared to homozygotes on a congenic C57BR background

• die around E13-E14

craniofacial

abnormal bony labyrinth ( J:114748 )

• 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

abnormal muscle precursor cell migration ( J:32016 )

• 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

abnormal myogenesis ( J:112275 , J:18227 , J:32016 )

• lack myogenic cells in the forming limb buds and hypoglossal cord at E11.5 (J:112275)

• 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)

abnormal hypoglossal cord morphology ( J:112275 )

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

abnormal dermomyotome development ( J:112275 , J:32016 )

• foreshortening of the epaxial domain and complete loss of the hypaxial domain of the dermomyotome at E10.5 (J:112275)

• 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)

skeleton

abnormal bony labyrinth ( J:114748 )

• 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

open neural tube ( J:114748 )

• 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

spina bifida ( J:110617 , J:112275 )

• 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

abnormal bony labyrinth ( J:114748 )

• 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

abnormal otic vesicle development ( J:114748 )

• in mice where the neural tube defect extends to the cranial region

decreased cochlea coiling ( J:114748 )

• at E12 cochlear coiling is poor

abnormal semicircular canal morphology ( J:114748 )

• present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth

abnormal utricle morphology ( J:114748 )

• difficult to distinguish and highly abnormal

abnormal vestibular saccule morphology ( J:114748 )

• difficult to distinguish and highly abnormal

abnormal endolymphatic duct morphology ( J:114748 )

• 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

short endolymphatic duct ( J:114748 )

• at E10, the endolymphatic duct is shorter than normal

embryo

open neural tube ( J:114748 )

• 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

spina bifida ( J:110617 , J:112275 )

• 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

abnormal muscle precursor cell migration ( J:32016 )

• 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: Pax3^Sp/Pax3⁺
• Genetic Background: C57BL-Pax3^Sp

pigmentation

white spotting ( J:12957 )

• occasional spotting on the back and increased spotting on the tail compared to wild-type mice

• the feet are usually white

belly spot ( J:12957 )

integument

white spotting ( J:12957 )

• occasional spotting on the back and increased spotting on the tail compared to wild-type mice

• the feet are usually white

belly spot ( J:12957 )

Genotype
MGI:3690099

ht6

• Allelic Composition: Pax3^Sp/Pax3⁺
• Genetic Background: involves: C3HeB * C57BL * C57BL/6J * SWV

nervous system

spina bifida ( J:114747 )

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

embryo

spina bifida ( J:114747 )

• 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: Pax3^Sp/Pax3⁺
• Genetic Background: involves: C57BL * C57BL/6J * CBA

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:2179 )

N • auditory function and ear morphology are similar to wild-type mice

Genotype
MGI:2687398

ht8

• Allelic Composition: Pax3^tm1Buck/Pax3^Sp
• Genetic Background: involves: 129P2/OlaHsd * C57BL

mortality/aging

prenatal lethality, complete penetrance ( J:86911 )

• stated to display the same phenotype as Pax3^Sp mice; however, no data is provided in J:86911

nervous system

open neural tube ( J:86911 )

• stated to display the same phenotype as Pax3^Sp mice

exencephaly ( J:86911 )

• stated to display the same phenotype as Pax3^Sp mice

• incidence is less than the incidence of spina bifida

absent dorsal root ganglion ( J:86911 )

muscle

abnormal myogenesis ( J:86911 )

• stated to display the same phenotype as Pax3^Sp mice including absence of limb muscles at E11.5

abnormal dermomyotome development ( J:86911 )

• stated to display the same phenotype as Pax3^Sp

embryo

abnormal neural crest cell migration ( J:86911 )

• impaired

open neural tube ( J:86911 )

• stated to display the same phenotype as Pax3^Sp mice

cellular

abnormal neural crest cell migration ( J:86911 )

• impaired

Genotype
MGI:3047709

ht9

• Allelic Composition: Pax3^{tm3.1(Pax7)Buck}/Pax3^Sp
• Genetic Background: involves: 129S2/SvPas

mortality/aging

perinatal lethality, complete penetrance ( J:90568 )

• perinatal lethality probably related to impaired diaphragm development is seen

cellular

decreased cell proliferation ( J:90568 )

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

muscle

abnormal diaphragm development ( J:90568 )

• development of the diaphragm is impaired as a result of impaired progenitor cell migration

abnormal myogenesis ( J:90568 )

• forelimb muscles and hindlimb palm muscles are absent and hindlimb muscles are reduced

nervous system

spina bifida ( J:90568 )

• failure of neural tube closure is seen at about the same rate as in Pax3^Sp heterozygotes

embryo

spina bifida ( J:90568 )

• failure of neural tube closure is seen at about the same rate as in Pax3^Sp heterozygotes

integument

integument phenotype ( J:90568 )

N • no melanocyte abnormalities are seen

Genotype
MGI:2687400

cn10

• Allelic Composition: Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3^Sp
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

embryo

abnormal somite border morphology ( J:86911 )

• disorganized boundaries between the hypaxial somites; however, none of the defects seen in Pax3^Sp homozygotes are present in these mice

muscle

abnormal muscle development ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

skeleton

abnormal rib development ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

Genotype
MGI:5774472

cn11

• Allelic Composition: Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺; Pax3^Sp/Pax3⁺; Tg(Pax3-cre)1Joe/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

integument

abnormal coat/hair pigmentation ( J:231654 )

• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants

• lack of pigmentation in the forepaws and hindpaws

abnormal tail hair pigmentation ( J:231654 )

• lack of pigmentation in the distal tail

belly spot ( J:231654 )

nervous system

abnormal enteric ganglia morphology ( J:231654 )

• mice exhibit hypoganglionosis

pigmentation

abnormal coat/hair pigmentation ( J:231654 )

• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants

• lack of pigmentation in the forepaws and hindpaws

abnormal tail hair pigmentation ( J:231654 )

• lack of pigmentation in the distal tail

belly spot ( J:231654 )

Genotype
MGI:3690098

cx12

• Allelic Composition: Fign^fi/Fign^fi; Pax3^Sp/Pax3^Sp
• Genetic Background: BR.Cg-Pax3^Sp Fign^fi

mortality/aging

prenatal lethality, complete penetrance ( J:11996 )

• lethality is reduced compared to mice homozygous for the Pax3 mutation alone and similar to mice homozygous for the Fign mutation alone

nervous system

open neural tube ( J:11996 )

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

embryo

open neural tube ( J:11996 )

• 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: Lbx2^tm1Fchn/Lbx2^tm1Fchn; Pax3^Sp/Pax3^Sp
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

open neural tube ( J:121890 )

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

exencephaly ( J:121890 )

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

abnormal cranial ganglia morphology ( J:121890 )

• Lbx2 expression is significantly decreased with Pax3 deficiency

abnormal dorsal root ganglion morphology ( J:121890 )

• Lbx2 expression is significantly decreased with Pax3 deficiency

homeostasis/metabolism

edema ( J:121890 )

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

embryo

open neural tube ( J:121890 )

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

Genotype
MGI:3690112

cx14

• Allelic Composition: Pax3^Sp/Pax3^Sp; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL * C57BL/6J * FVB

nervous system

nervous system phenotype ( J:75569 )

N • all mice have closed neural tubes and no neuroepithelial apoptosis is seen, unlike mice homozygous for the Pax3 mutation alone

Genotype
MGI:3690111

cx15

• Allelic Composition: Pax3^Sp/Pax3^Sp; Trp53^tm1Tyj/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * C57BL * C57BL/6J * FVB

nervous system

open neural tube ( J:75569 )

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

embryo

open neural tube ( J:75569 )

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