All Phenotypes Pax3<tm1(cre)Joe> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pax3^tm1(cre)Joe
targeted mutation 1, Jonathan A Epstein
MGI:3573783

Summary

36 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe	Not Specified	MGI:3804315
cn2	Pax3^tm1(cre)Joe/Pax3^tm2Joe	involves: 129S1/Sv * 129X1/SvJ	MGI:4442468
cn3	Egln1^tm2.1Fsl/Egln1^tm2.1Fsl Pax3^tm1(cre)Joe/Pax3⁺	involves: 129 * C57BL/6	MGI:5525140
cn4	Egln1^tm2.1Fsl/Egln1⁺ Pax3^tm1(cre)Joe/Pax3⁺	involves: 129 * C57BL/6	MGI:5525141
cn5	Notch2^tm3Grid/Notch2^tm3.1Grid Pax3^tm1(cre)Joe/Pax3⁺	involves: 129 * C57BL/6	MGI:3778204
cn6	Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Pax3^tm1(cre)Joe/Pax3⁺	involves: 129 * C57BL/6N	MGI:7545143
cn7	Pax3^tm1(cre)Joe/Pax3⁺ Rbpj^tm1Hon/Rbpj^tm1Hon	involves: 129P2/OlaHsd	MGI:3706969
cn8	Elmo1^tm1.2Ravi/Elmo1^tm1.2Ravi Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Pax3^tm1(cre)Joe/Pax3⁺	involves: 129P2/OlaHsd * C57BL/6N	MGI:7545139
cn9	Dkk1^tm1.1Svo/Dkk1^tm1.2Svo Pax3^tm1(cre)Joe/Pax3⁺	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5013427
cn10	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J	MGI:7341519
cn11	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0 Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J	MGI:7341523
cn12	Myh3^tm1.2Sajm/Myh3^tm1.1Sajm Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6J	MGI:6695907
cn13	Ets1^tm2Jml/Ets1^tm2Jml Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * C57BL/6NCrl	MGI:7541421
cn14	Sp8^tm1Smb/Sp8^tm2Smb Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:7437668
cn15	Gt(ROSA)26Sor^{tm3(SS18/EGFP)Mrc}/Gt(ROSA)26Sor^{tm3(SS18/EGFP)Mrc} Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3711000
cn16	Gt(ROSA)26Sor^tm2(SS18)Mrc/Gt(ROSA)26Sor^tm2(SS18)Mrc Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3711001
cn17	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3804314
cn18	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3804316
cn19	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3804317
cn20	Ets1^tm1Most/Ets1^tm1Most Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:7541422
cn21	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5775442
cn22	Bcor^tm1.1Vjba/Y Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S1/Sv * C57BL/6J	MGI:7343896
cn23	Men1^tm1.2Ctre/Men1^tm1.2Ctre Pax3^tm1(cre)Joe/Pax3⁺ Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺	involves: 129S4/SvJaeSor * 129S6/SvEvTac	MGI:7344040
cn24	Men1^tm1.2Ctre/Men1^tm1.2Ctre Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S6/SvEvTac	MGI:7344035
cn25	Men1^tm1.2Ctre/Men1⁺ Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S6/SvEvTac	MGI:7344034
cn26	Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3⁺ Tg(Myl1-lacZ)1Ibdml/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5524136
cn27	Arl13b^hnn/Arl13b^tm1Tc Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S6/SvEvTac * C57BL/6J	MGI:5052337
cn28	Nf1^tm1Fcr/Nf1^tm1Par Pax3^tm1(cre)Joe/Pax3⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:3689705
cn29	Itm2a^tm1.1Buck/Y Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe	involves: C57BL/6	MGI:5518668
cn30	Itm2a^tm1.1Buck/Y Pax3^tm1(cre)Joe/Pax3⁺	involves: C57BL/6	MGI:5518667
cn31	Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺	involves: C57BL/6	MGI:5495303
cn32	Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺	Not Specified	MGI:3807513
cn33	Pax3^tm1(cre)Joe/Pax3⁺ Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0	Not Specified	MGI:3829044
cn34	Pax3^tm1(cre)Joe/Pax3⁺ Tbx5^tm1Jse/Tbx5^tm1Jse	Not Specified	MGI:4442424
cn35	Ctnnb1^tm4Wbm/Ctnnb1^tm4Wbm Pax3^tm1(cre)Joe/Pax3⁺	Not Specified	MGI:3576470
cn36	Nr2c2^tm1Bbm/Nr2c2^tm1Bbm Pax3^tm1(cre)Joe/Pax3⁺	Not Specified	MGI:5517372

Allelic Composition	Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:137730 )

• despite normal numbers at E17.5, no mice survive beyond P2

nervous system

abnormal neural tube morphology ( J:137730 )

• at E13.5, mice exhibit neural tube defects either at the lumbar or cranial level or both

open neural tube ( J:137730 )

exencephaly ( J:137730 )

muscle

abnormal diaphragm development ( J:137730 )

• at E17.5, the diaphragm is thin and lacks muscle

thin diaphragm muscle ( J:137730 )

limbs/digits/tail

abnormal hindlimb morphology ( J:137730 )

embryo

abnormal neural tube morphology ( J:137730 )

• at E13.5, mice exhibit neural tube defects either at the lumbar or cranial level or both

open neural tube ( J:137730 )

Allelic Composition	Pax3^tm1(cre)Joe/Pax3^tm2Joe
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Pax3^tm2Joe mutation (0 available); any Pax3 mutation (51 available)

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

normal phenotype

no abnormal phenotype detected ( J:159124 )

• no obvious phenotype, viable and fertile

• normal septation of the aorta and pulmonary artery

• normal forelimb musculature

Allelic Composition	Egln1^tm2.1Fsl/Egln1^tm2.1Fsl Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egln1^tm2.1Fsl mutation (0 available); any Egln1 mutation (23 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

cardiovascular system

abnormal liver vasculature morphology ( J:202737 )

• number and size of vessels is increased as compared to controls

increased heart weight ( J:202737 )

• increased cardiac mass as compared to controls

hematopoietic system

increased spleen weight ( J:202737 )

polycythemia ( J:202737 )

• mice exhibit erythrocytosis, however, erythropoietin levels are not increased

increased hematocrit ( J:202737 )

• mice exhibit hematocrits of over 80%

immune system

increased spleen weight ( J:202737 )

liver/biliary system

abnormal liver vasculature morphology ( J:202737 )

• number and size of vessels is increased as compared to controls

increased liver weight ( J:202737 )

growth/size/body

increased heart weight ( J:202737 )

• increased cardiac mass as compared to controls

increased liver weight ( J:202737 )

increased spleen weight ( J:202737 )

Allelic Composition	Egln1^tm2.1Fsl/Egln1⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

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

hematopoietic system

polycythemia ( J:202737 )

• mice exhibit erythrocytosis, however, erythropoietin levels are not increased

increased hematocrit ( J:202737 )

• hematocrits are modestly (60%) increased over controls

Allelic Composition	Notch2^tm3Grid/Notch2^tm3.1Grid Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm3.1Grid mutation (0 available); any Notch2 mutation (97 available)
Notch2^tm3Grid mutation (2 available); any Notch2 mutation (97 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:132939 )

• there is a 50% mortality rate between birth and weaning

cardiovascular system

pulmonary artery stenosis ( J:132939 )

• pulmonary arteries of E18.5 embryos and newborns are significantly smaller

supravalvar pulmonary trunk stenosis ( J:132939 )

• the mean inner diameter of the pulmonary trunk is 1.22 mm compared to 1.56 mm for age-matched controls

aorta stenosis ( J:132939 )

• aorta diameters of all E18.5 embryos and newborns are decreased compared to wild-type mice

• the mean aortic diameter is 1.3 mm compared to 1.5 mm for age-matched controls

abnormal vascular smooth muscle morphology ( J:132939 )

• smooth muscle cell proliferation is reduced to 9% in E16.5 embryos compared to 22.5% of wild-type embryos

craniofacial

abnormal tooth morphology ( J:132939 )

• dental malformations inhibit the ability of mice to feed postnatally

growth/size/body

abnormal tooth morphology ( J:132939 )

• dental malformations inhibit the ability of mice to feed postnatally

decreased body weight ( J:132939 )

• by one week of age, mice weigh significantly less than control littermates

homeostasis/metabolism

cyanosis ( J:132939 )

• a mild cyanotic appearance is observed in neonates

muscle

abnormal vascular smooth muscle morphology ( J:132939 )

• smooth muscle cell proliferation is reduced to 9% in E16.5 embryos compared to 22.5% of wild-type embryos

skeleton

abnormal tooth morphology ( J:132939 )

• dental malformations inhibit the ability of mice to feed postnatally

Allelic Composition	Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo2^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Elmo2 mutation (37 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:331473 )

• fewer than expected mice are present at weaning

Allelic Composition	Pax3^tm1(cre)Joe/Pax3⁺ Rbpj^tm1Hon/Rbpj^tm1Hon
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Rbpj^tm1Hon mutation (2 available); any Rbpj mutation (191 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:120053 )

• expected Mendelian ratios are born but homozygous mice do not move or breath and die shortly after birth

muscle

abnormal myogenesis ( J:120053 )

• at E11.5, progenitor cell numbers in the myotome are decreased and the number of differentiated cells is increased compared to wild-type

abnormal epaxial muscle morphology ( J:120053 )

• at E14.5 residual back muscles are small and lack progenitor cells

• limb muscles have reduced myogenic precursor cells and lack satellite cells

abnormal diaphragm morphology ( J:120053 )

• diaphragm is smaller

abnormal intercostal muscle morphology ( J:120053 )

• intercostal muscles are small

hypaxial muscle hypoplasia ( J:120053 )

• at E14.5, the size of limb muscle groups is reduced

decreased satellite cell number ( J:120053 )

• absence of satellite cells in limb, intercostals, diaphragm and deep back muscles

respiratory system

respiratory failure ( J:120053 )

behavior/neurological

no spontaneous movement ( J:120053 )

• no movement at birth

nervous system

abnormal neuron differentiation ( J:130251 )

• at E10.5 and E11.5, mice exhibit precocious neuronal differentiation compared to in wild-type mice

• overall neurogenesis is increased in the dorsal spinal cord

• the numbers of dI2 and dI3 neurons are increased slightly while the number of dI5 neurons is increased dramatically compared to in wild-type mice

abnormal neural tube morphology ( J:130251 )

• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with the number of dI2, dI3, and dI5 neurons being increased

• the number of dI5 neurons is dramatically increased while increases in dI2 and dI3 neurons are more modest

• there is a significant decrease in the thickness of the progenitor domain of the E11.5 neural tube and a corresponding increase in the neuronal domain

• the dorsal progenitor domain of the neural tube is depleted by E12

loss of GABAergic neurons ( J:130251 )

• mice exhibit a reduction in the number of dI4 neurons compared to in wild-type mice

abnormal glutaminergic neuron morphology ( J:130251 )

• the numbers of dI3 neurons are increased slightly compared to in wild-type mice

decreased neuronal precursor cell number ( J:130251 )

• the progenitor domain is reduced compared to in wild-type mice

abnormal dorsal interneuron 4 morphology ( J:130251 )

• mice exhibit a complete loss of dI4 interneurons

embryo

abnormal neural tube morphology ( J:130251 )

• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with the number of dI2, dI3, and dI5 neurons being increased

• the number of dI5 neurons is dramatically increased while increases in dI2 and dI3 neurons are more modest

• there is a significant decrease in the thickness of the progenitor domain of the E11.5 neural tube and a corresponding increase in the neuronal domain

• the dorsal progenitor domain of the neural tube is depleted by E12

cellular

abnormal neuron differentiation ( J:130251 )

• at E10.5 and E11.5, mice exhibit precocious neuronal differentiation compared to in wild-type mice

• overall neurogenesis is increased in the dorsal spinal cord

• the numbers of dI2 and dI3 neurons are increased slightly while the number of dI5 neurons is increased dramatically compared to in wild-type mice

Allelic Composition	Elmo1^tm1.2Ravi/Elmo1^tm1.2Ravi Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo1^tm1.2Ravi mutation (0 available); any Elmo1 mutation (60 available)
Elmo2^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Elmo2 mutation (37 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:331473 )

• no mice are present after weaning

• however, normal Mendelian ratios at E14.5

muscle

abnormal muscle development ( J:331473 )

• only mononucleated muscle cells at E14.5

• reduced muscle content at E16.5

abnormal diaphragm development ( J:331473 )

• smaller thickness at E16.5 with a failure to attach to the ribs

Allelic Composition	Dkk1^tm1.1Svo/Dkk1^tm1.2Svo Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dkk1^tm1.1Svo mutation (1 available); any Dkk1 mutation (19 available)
Dkk1^tm1.2Svo mutation (0 available); any Dkk1 mutation (19 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:173125 )

embryo

caudal body truncation ( J:173125 )

craniofacial

abnormal craniofacial development ( J:173125 )

• craniofacial development is truncated compared to in wild-type mice

renal/urinary system

renal/urinary system phenotype ( J:173125 )

N	• mice exhibit normal kidneys

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (80 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:279139 )

• although embryos are present at expected Mendelian ratios from E10.5 to E18.5, all pups die at P1 from respiratory failure

• no live mice are recovered at P10

respiratory system

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

atelectasis ( J:279139 )

• lungs are hardly inflated at P1

respiratory distress ( J:279139 )

respiratory failure ( J:279139 )

embryo

abnormal rostral-caudal body axis extension ( J:279139 )

• shortened body axis at P1

craniofacial

abnormal craniofacial morphology ( J:279139 )

• severe craniofacial defects

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E17.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal neurocranium morphology ( J:279139 )

• reduced thickness of ossified calvaria at E17.5

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

skeleton

abnormal axial skeleton morphology ( J:279139 )

• severe defects including a shortened axial skeleton at E17.5

abnormal craniofacial bone morphology ( J:279139 )

• severe hypoplasia and reduced ossification of many neural crest-derived bones at E17.5

• both the shape and size of most neural crest-derived bones including alisphenoid, premaxilla, palatal process of premaxilla, palatal process of maxilla and palatine are affected

abnormal neurocranium morphology ( J:279139 )

• reduced thickness of ossified calvaria at E17.5

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal spine curvature ( J:279139 )

• vertebral column is rather straight in the cervical and thoracic region, positioning the skull and vertebral column perpendicular to each other at E17.5; likely due to ectopic bone formation and fusion of vertebral bodies

fusion of vertebral bodies ( J:279139 )

• fusion of vertebral bodies at E17.5

ectopic bone ( J:279139 )

• ectopic bone formation in the vertebral column at E17.5

decreased bone ossification ( J:279139 )

• reduced ossification of the nasal bone and many neural crest-derived bones at E17.5

nervous system

abnormal hypoglossal nerve morphology ( J:279139 )

• hypoglossal nerve (XII cranial nerve) appears disorganized and shorter at E10.5; the roots of the hypoglossal nerve are not fully developed

• in contrast, dorsal root ganglion size is normal

abnormal oculomotor nerve morphology ( J:279139 )

• oculomotor (III) appears deformed at E10.5

abnormal trochlear nerve morphology ( J:279139 )

• trochlear (IV) nerve appears deformed at E10.5

growth/size/body

abnormal frontal bone morphology ( J:279139 )

• frontal bones are hypoplastic and widely separated leaving a wide dorsal opening

frontal bone hypoplasia ( J:279139 )

small mandible ( J:279139 )

abnormal nasal bone morphology ( J:279139 )

• reduced ossification of the nasal bone at E17.5

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

small thoracic cavity ( J:279139 )

• smaller thoracic cavity at E17.5

digestive/alimentary system

absent palatine bone horizontal plate ( J:279139 )

• palatal process of palatine bone is missing at E17.5

abnormal palatal mesenchymal cell proliferation ( J:279139 )

• Ki67 immunohistochemistry showed a significant decrease in mesenchymal cell proliferation in middle palatal shelves sections at E12.5, with a more pronounced reduction observed at E15.5

• no differences in apoptotic cell death or in E-caherin expression are observed in palatal shelves at E15.5

• primary palate development is normal

palatal shelves fail to meet at midline ( J:279139 )

• palatal shelves are elevated above the tongue to a horizontal position but completely fail to fuse at the midline throughout the anterior-posterior axis at E15.5 and E18.5

cleft secondary palate ( J:279139 )

• all fetuses (E15.5 and E18.5) and neonates show a secondary cleft palate defect

integument

subcutaneous edema ( J:279139 )

• severe subcutaneous edema at E15.5 and E17.5

thin dermal layer ( J:279139 )

• thin dermal layer due to subcutaneous edema

homeostasis/metabolism

subcutaneous edema ( J:279139 )

• severe subcutaneous edema at E15.5 and E17.5

cardiovascular system

cardiovascular system phenotype ( J:279139 )

N	• no alterations in smooth muscle actin staining in the aortic arches and normal septation and alignment of the aorta and pulmonary trunk at E18.5, indicating normal cardiac outflow tract development

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:279139 )

N	• normal thymus and adrenal gland (chromaffin cells) morphology at E18.5

muscle

muscle phenotype ( J:279139 )

N	• normal forelimb musculature at E17.5 and at P1 • normal diaphragm musculature at E15.5 and E17.5

Allelic Composition	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Pax3^tm1(cre)Joe/0 Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo} mutation (10 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Rbfox2^tm1.1Dblk mutation (1 available); any Rbfox2 mutation (80 available)

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

embryo

embryo phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial and cardiac neural crest cell migration

cellular

cellular phenotype ( J:279139 )

N	• lineage-tracing analysis showed no apparent defects in cranial and cardiac neural crest cell migration

Allelic Composition	Myh3^tm1.2Sajm/Myh3^tm1.1Sajm Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh3^tm1.1Sajm mutation (0 available); any Myh3 mutation (74 available)
Myh3^tm1.2Sajm mutation (0 available); any Myh3 mutation (74 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

muscle

abnormal muscle precursor cell morphology ( J:287755 )

• 50% reduction in myogenic precursor marker Pax7 peptide level in E13.5 embryos

• significantly increased levels of committed myoblast markers MyoD and myogenin peptide levels in E13.5 embryos

Allelic Composition	Ets1^tm2Jml/Ets1^tm2Jml Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * C57BL/6NCrl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ets1^tm2Jml mutation (0 available); any Ets1 mutation (27 available)
Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze} mutation (8 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

cardiovascular system

abnormal cardiac outflow tract development ( J:334073 )

abnormal conotruncal ridge morphology ( J:334073 )

• at E13.5, alpha-actinin staining showed that cardiac myocytes are separated from the tdTomato positive cNCCs in the OFT cushion

• by E15.5, far fewer cardiomyocytes are in contact with tdTomato positive cNCCs in the OFT cushion, indicating impaired muscularization

double outlet right ventricle ( J:334073 )

• by E15.5, cNCCs persist as a fibrous outlet septum in the setting of DORV

embryo

abnormal neural crest cell physiology ( J:334073 )

• 12.7% of explanted cultured cardiac neural crest cells (cNCCs) make cell-cell contacts versus 8.5% of control cNCCs; strikingly, 81% of those contacts fail to separate within 2 h versus only 31.2% in control cNCCs, suggesting increased cell-cell adhesion

abnormal cardiac neural crest cell migration ( J:334073 )

• at E9.5, fewer tdTomato-labeled cNCCs are detected in the developing outflow tract (OFT) relative to control embryos, suggesting a delay in cNCC migration

• at E10.5, a nearly complete absence of tdTomato cNCCs is seen in the proximal component of the OFT cushions

• lack of tdTomato cNCCs in the proximal outflow cushion is less severe at E11.5; abundant cNCCs are found in the distal and intermediate outflow cushions, but not in proximal cushions, consistent with delayed migration

• moreover, number of Pax3Cre-tdTomato expressing cells that co-express SOX10 is markedly decreased and the linear migration pattern from the neural tube toward the heart is disrupted; most of tdTomato positive-expressing cells lacking SOX10 expression are located rather peripherally

• N-cadherin staining showed upregulation of N-cadherin expression in migratory NCCs at E8.5 and E9.5

• time-lapse image analysis of explanted cultured cNCCs showed a significant decrease in migration velocity relative to controls

cellular

abnormal neural crest cell physiology ( J:334073 )

abnormal cardiac neural crest cell migration ( J:334073 )

• at E9.5, fewer tdTomato-labeled cNCCs are detected in the developing outflow tract (OFT) relative to control embryos, suggesting a delay in cNCC migration

• at E10.5, a nearly complete absence of tdTomato cNCCs is seen in the proximal component of the OFT cushions

• N-cadherin staining showed upregulation of N-cadherin expression in migratory NCCs at E8.5 and E9.5

• time-lapse image analysis of explanted cultured cNCCs showed a significant decrease in migration velocity relative to controls

Allelic Composition	Sp8^tm1Smb/Sp8^tm2Smb Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Sp8^tm1Smb mutation (0 available); any Sp8 mutation (29 available)
Sp8^tm2Smb mutation (1 available); any Sp8 mutation (29 available)

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

craniofacial

craniofacial phenotype ( J:200761 )

N	• 5 of 17 mice exhibited no detectable craniofacial defects

absent frontal bone ( J:200761 )

• 5 of 17 mice exhibited absence of the frontal bone

absent parietal bone ( J:200761 )

• 5 of 17 mice exhibited absence of the parietal bones

abnormal face development ( J:200761 )

• 11 of 17 mice exhibited truncation of anterior facial (snout) structures

cleft upper lip ( J:200761 )

• 7 of 17 mice exhibited cleft lip and/or palate

cleft palate ( J:200761 )

• 7 of 17 mice exhibited cleft lip and/or palate

small snout ( J:200761 )

midline facial cleft ( J:200761 )

• 5 of 17 mice exhibited a severe midline cleft

• 7 of 17 mice exhibited moderate midline defects

growth/size/body

absent frontal bone ( J:200761 )

• 5 of 17 mice exhibited absence of the frontal bone

abnormal face development ( J:200761 )

• 11 of 17 mice exhibited truncation of anterior facial (snout) structures

cleft upper lip ( J:200761 )

• 7 of 17 mice exhibited cleft lip and/or palate

cleft palate ( J:200761 )

• 7 of 17 mice exhibited cleft lip and/or palate

small snout ( J:200761 )

midline facial cleft ( J:200761 )

• 5 of 17 mice exhibited a severe midline cleft

• 7 of 17 mice exhibited moderate midline defects

nervous system

exencephaly ( J:200761 )

• 5 of 17 mice exhibited exencephaly

vision/eye

ocular hypertelorism ( J:200761 )

• 5 of 17 mice exhibited hypertelorism

digestive/alimentary system

cleft palate ( J:200761 )

• 7 of 17 mice exhibited cleft lip and/or palate

skeleton

absent frontal bone ( J:200761 )

• 5 of 17 mice exhibited absence of the frontal bone

absent parietal bone ( J:200761 )

• 5 of 17 mice exhibited absence of the parietal bones

Allelic Composition	Gt(ROSA)26Sor^{tm3(SS18/EGFP)Mrc}/Gt(ROSA)26Sor^{tm3(SS18/EGFP)Mrc} Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm3(SS18/EGFP)Mrc} mutation (0 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:120967 )

• no embryos are recovered at E13.5 but are present at E10.5

Allelic Composition	Gt(ROSA)26Sor^tm2(SS18)Mrc/Gt(ROSA)26Sor^tm2(SS18)Mrc Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm2(SS18)Mrc mutation (0 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:120967 )

• no embryos are recovered at E13.5 but are present at E10.5

Allelic Composition	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm2(Pax3)Joe mutation (0 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

postnatal lethality ( J:137730 )

• despite normal numbers at E17.5, no mice survive beyond P2 due to a failure to suckle

craniofacial

abnormal craniofacial bone morphology ( J:137730 )

absent alisphenoid bone ( J:137730 )

• the alisphenoid is hypoplastic or absent

alisphenoid bone hypoplasia ( J:137730 )

• the alisphenoid is hypoplastic or absent

abnormal pterygoid process morphology ( J:137730 )

• the pterygoid process is hypoplastic or absent

absent pterygoid process ( J:137730 )

• the pterygoid process is hypoplastic or absent

abnormal secondary palate development ( J:137730 )

• at P0, the secondary palate is absent

• at E14.5 and E16.5, mice lack ossification centers along the midline of the palate

• at E15.5 and E17.5, mineralization of the palate is decreased

cleft palate ( J:137730 )

failure of palatal shelf elevation ( J:137730 )

• at E16.5, mutant mice display a cleft palate with palatal shelves that fail to lift

skeleton

abnormal osteoblast differentiation ( J:137730 )

• impaired in primary palate cultures

abnormal craniofacial bone morphology ( J:137730 )

absent alisphenoid bone ( J:137730 )

• the alisphenoid is hypoplastic or absent

alisphenoid bone hypoplasia ( J:137730 )

• the alisphenoid is hypoplastic or absent

abnormal pterygoid process morphology ( J:137730 )

• the pterygoid process is hypoplastic or absent

absent pterygoid process ( J:137730 )

• the pterygoid process is hypoplastic or absent

abnormal bone ossification ( J:137730 )

• primary palate cultures fail to form nodules and mineralize following treatment with BMP unlike in wild-type cultures due to impaired osteogenic differentiation

abnormal bone mineralization ( J:137730 )

• at E14.5 and E16.5, mice lack ossification centers along the midline of the palate

• at E15.5 and E17.5, mineralization of the palate is decreased

limbs/digits/tail

limbs/digits/tail phenotype ( J:137730 )

N	• unlike Pax3^tm1(cre)Joe homozygotes, hindlimb development is normal

abnormal forelimb morphology ( J:137730 )

• forelimb musculature is hypoplastic

vision/eye

abnormal eyelid development ( J:137730 )

• mice exhibit defects in eyelid development from eyelids that fail to fuse to completely missing eyelids

failure of eyelid fusion ( J:137730 )

• in some mice

absent eyelids ( J:137730 )

• in some mice

hearing/vestibular/ear

decreased tympanic ring size ( J:137730 )

• thinned

muscle

muscle phenotype ( J:137730 )

N	• unlike Pax3^tm1(cre)Joe homozygotes, diaphragm and hindlimb musculature develop normally

hypaxial muscle hypoplasia ( J:137730 )

• forelimb musculature is hypoplastic

nervous system

nervous system phenotype ( J:137730 )

N	• unlike Pax3^tm1(cre)Joe homozygotes, mice exhibit normal neural tube development

digestive/alimentary system

abnormal secondary palate development ( J:137730 )

• at P0, the secondary palate is absent

• at E14.5 and E16.5, mice lack ossification centers along the midline of the palate

• at E15.5 and E17.5, mineralization of the palate is decreased

cleft palate ( J:137730 )

failure of palatal shelf elevation ( J:137730 )

• at E16.5, mutant mice display a cleft palate with palatal shelves that fail to lift

cellular

abnormal osteoblast differentiation ( J:137730 )

• impaired in primary palate cultures

growth/size/body

absent alisphenoid bone ( J:137730 )

• the alisphenoid is hypoplastic or absent

alisphenoid bone hypoplasia ( J:137730 )

• the alisphenoid is hypoplastic or absent

abnormal secondary palate development ( J:137730 )

• at P0, the secondary palate is absent

• at E14.5 and E16.5, mice lack ossification centers along the midline of the palate

• at E15.5 and E17.5, mineralization of the palate is decreased

cleft palate ( J:137730 )

failure of palatal shelf elevation ( J:137730 )

• at E16.5, mutant mice display a cleft palate with palatal shelves that fail to lift

Allelic Composition	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

postnatal lethality ( J:137730 )

• despite normal numbers at E17.5, no mice survive beyond P2

Allelic Composition	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

craniofacial

decreased palatal length ( J:137730 )

• mice display mild shortening of the palate

limbs/digits/tail

limbs/digits/tail phenotype ( J:137730 )

N	• unlike Pax3^tm1(cre)Joe homozygotes, hind limb morphology is normal

muscle

muscle phenotype ( J:137730 )

N	• unlike Pax3^tm1(cre)Joe homozygotes, diaphragm morphology is normal

digestive/alimentary system

decreased palatal length ( J:137730 )

• mice display mild shortening of the palate

growth/size/body

decreased palatal length ( J:137730 )

• mice display mild shortening of the palate

Allelic Composition	Ets1^tm1Most/Ets1^tm1Most Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ets1^tm1Most mutation (0 available); any Ets1 mutation (27 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

cardiovascular system

double outlet right ventricle ( J:334073 )

• at E14.5, 50% (4 of 8) embryos exhibit a DORV phenotype: the aorta is aligned with the right ventricle with an interventricular communication

Allelic Composition	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4^tm1.1Sad mutation (1 available); any Gata4 mutation (37 available)
Gata4^tm1.2Sad mutation (0 available); any Gata4 mutation (37 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

muscle

muscle phenotype ( J:231793 )

N	• mice exhibit normal diaphragm development

Allelic Composition	Bcor^tm1.1Vjba/Y Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bcor^tm1.1Vjba mutation (1 available); any Bcor mutation (19 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

cardiovascular system

cardiovascular system phenotype ( J:296645 )

N	• persistent truncus arteriosus is not seen despite loss of expression in neural crest cells

skeleton

short Meckel's cartilage ( J:296645 )

• fails to properly elongate and has a broader, curved shape at E14.5

short mandible ( J:296645 )

hearing/vestibular/ear

decreased tympanic ring size ( J:296645 )

• appears truncated and thicker

endocrine/exocrine glands

abnormal major salivary gland morphology ( J:296645 )

• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

• ectopic glands contain mainly serous acini but also have groups of mucous acini

behavior/neurological

absent gastric milk in neonates ( J:296645 )

craniofacial

short Meckel's cartilage ( J:296645 )

• fails to properly elongate and has a broader, curved shape at E14.5

short mandible ( J:296645 )

failure of palatal shelf elevation ( J:296645 )

• fail to rise to the horizontal position at E14.5 and E15.5

• in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

• all show severe clefting

• complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

• disorganized morphology

abnormal tongue position ( J:296645 )

• at E14.5 the tongue fails to descend within the oral cavity

• tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

• in some cases

tongue ankylosis ( J:296645 )

digestive/alimentary system

failure of palatal shelf elevation ( J:296645 )

• fail to rise to the horizontal position at E14.5 and E15.5

• in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

• all show severe clefting

• complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

• disorganized morphology

abnormal tongue position ( J:296645 )

• at E14.5 the tongue fails to descend within the oral cavity

• tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

• in some cases

tongue ankylosis ( J:296645 )

abnormal major salivary gland morphology ( J:296645 )

• supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

• ectopic glands contain mainly serous acini but also have groups of mucous acini

integument

pallor ( J:296645 )

growth/size/body

short mandible ( J:296645 )

failure of palatal shelf elevation ( J:296645 )

• fail to rise to the horizontal position at E14.5 and E15.5

• in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

• all show severe clefting

• complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

• disorganized morphology

abnormal tongue position ( J:296645 )

• at E14.5 the tongue fails to descend within the oral cavity

• tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

• in some cases

tongue ankylosis ( J:296645 )

mortality/aging

neonatal lethality, complete penetrance ( J:296645 )

• fail to thrive and die within a few hours of birth

Allelic Composition	Men1^tm1.2Ctre/Men1^tm1.2Ctre Pax3^tm1(cre)Joe/Pax3⁺ Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (10 available); any Gt(ROSA)26Sor mutation (1046 available)
Men1^tm1.2Ctre mutation (1 available); any Men1 mutation (40 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

cardiovascular system

cardiovascular system phenotype ( J:127545 )

N	• fate mapping of Pax3 derivatives showed normal heart septation and cellular contributions to the outflow tract in newborn pups

digestive/alimentary system

digestive/alimentary phenotype ( J:127545 )

N	• fate mapping of Pax3 derivatives showed normal patterning of enteric ganglia in the stomach and gastrointestinal tract of newborn pups

Allelic Composition	Men1^tm1.2Ctre/Men1^tm1.2Ctre Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Men1^tm1.2Ctre mutation (1 available); any Men1 mutation (40 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:127545 )

• pups die at birth (58 of 84) or during the first postnatal day (P1)

• however, mice are recovered at Mendelian ratios at E14.5

respiratory system

primary atelectasis ( J:127545 )

• some pups fail to initiate effective respirations, as indicated by cyanosis, gasping and uninflated or under-inflated lungs

respiratory distress ( J:127545 )

• pups that fail to initiate effective respirations exhibit gasping

homeostasis/metabolism

cyanosis ( J:127545 )

• pups that fail to initiate effective respirations exhibit cyanosis

behavior/neurological

absent gastric milk in neonates ( J:127545 )

• some pups lack milk in their stomach

growth/size/body

abnormal palatal mesenchymal cell differentiation ( J:127545 )

• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal mesenchymal cell proliferation ( J:127545 )

• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation

• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5

• however, TUNEL analysis showed no changes in apoptosis at E14.5

abnormal secondary palate development ( J:127545 )

• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium

• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal shelf bone ossification ( J:127545 )

• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin

palatal shelves fail to meet at midline ( J:127545 )

• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed

palatal shelf hypoplasia ( J:127545 )

• despite increased cell density, palatal shelves are hypoplastic and fail to fuse

short soft palate ( J:127545 )

• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis

cleft secondary palate ( J:127545 )

• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity

• however, cleft jaw and lip are never observed

bilateral cleft palate ( J:127545 )

abnormal snout morphology ( J:127545 )

• many pups exhibit a shortened, dysmorphic snout

short snout ( J:127545 )

meteorism ( J:127545 )

• some pups exhibit gastrointestinal bloating

craniofacial

abnormal basisphenoid bone morphology ( J:127545 )

• newborns with or without cleft palate show a consistently malformed basisphenoid bone

• patterning defects in the basisphenoid bone are already noted at E16.5

abnormal pterygoid process morphology ( J:127545 )

• newborns with or without cleft palate exhibit abnormal length and broadness of the pterygoid processes

abnormal palatal mesenchymal cell differentiation ( J:127545 )

• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal mesenchymal cell proliferation ( J:127545 )

• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation

• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5

• however, TUNEL analysis showed no changes in apoptosis at E14.5

abnormal secondary palate development ( J:127545 )

• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium

• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal shelf bone ossification ( J:127545 )

• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin

palatal shelves fail to meet at midline ( J:127545 )

• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed

palatal shelf hypoplasia ( J:127545 )

• despite increased cell density, palatal shelves are hypoplastic and fail to fuse

short soft palate ( J:127545 )

• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis

cleft secondary palate ( J:127545 )

• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity

• however, cleft jaw and lip are never observed

bilateral cleft palate ( J:127545 )

abnormal snout morphology ( J:127545 )

• many pups exhibit a shortened, dysmorphic snout

short snout ( J:127545 )

skeleton

abnormal basisphenoid bone morphology ( J:127545 )

• newborns with or without cleft palate show a consistently malformed basisphenoid bone

• patterning defects in the basisphenoid bone are already noted at E16.5

abnormal pterygoid process morphology ( J:127545 )

• newborns with or without cleft palate exhibit abnormal length and broadness of the pterygoid processes

abnormal palatal shelf bone ossification ( J:127545 )

• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin

abnormal sternum morphology ( J:127545 )

• newborns exhibit rib/sternum abnormalities (14 of 84)

abnormal rib morphology ( J:127545 )

• newborns with or without cleft palate show rib/sternum malformations (14 of 84)

• rib defects involve different ribs among mutant mice and include fusions and bifurcations in the distal regions of the ribs unilaterally or bilaterally

• however, vertebral and appendicular skeleton, including digit patterning and rib attachment to vertebrae are normal

abnormal rib development ( J:127545 )

• rib defects are detected at E13.5, when ossification has not begun, indicating abnormal outgrowth of the cartilaginous rib primordia

rib bifurcation ( J:127545 )

rib fusion ( J:127545 )

• at E13.5, fusions are formed at the leading rib tips

abnormal sternum ossification ( J:127545 )

• rib defects are accompanied by irregular ossification of the sternum, likely due to incorrect rib attachment

digestive/alimentary system

abnormal palatal mesenchymal cell differentiation ( J:127545 )

• at E14.5, the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal mesenchymal cell proliferation ( J:127545 )

• intact E15.5 palatal shelves show decreased CDKN1B (cyclin dependent kinase inhibitor 1B) protein expression within the palatal mesenchyme, suggesting changes in cell proliferation

• a ~2-fold increase in the rate of proliferation of palatal shelf mesenchymal cells is seen at E14.5

• however, TUNEL analysis showed no changes in apoptosis at E14.5

abnormal secondary palate development ( J:127545 )

• at E14.5, a significant increase in cell density is seen within the unfused shelves esp. in the lateral areas adjacent to the epithelium

• the extracellular area within the unfused palatal shelf tips is significantly reduced, suggesting less differentiated palatal mesenchyme

abnormal palatal shelf bone ossification ( J:127545 )

• at E16.5, formation of ossified palatal shelves is severely delayed or absent; however, bone marker analysis showed normal expression of Runx2, osterix, and osteocalcin

palatal shelves fail to meet at midline ( J:127545 )

• although palatal shelves are always normally developed and positioned at E13.5 and lifted and apposed at E14.5, palatal shelf contact or fusion is often not observed

palatal shelf hypoplasia ( J:127545 )

• despite increased cell density, palatal shelves are hypoplastic and fail to fuse

short soft palate ( J:127545 )

• 3 of 11 pups exhibit shortened soft palates that do not extend to the epiglottis

cleft secondary palate ( J:127545 )

• 10 of 84 newborns exhibit a bilateral cleft of the secondary palate of variable severity

• however, cleft jaw and lip are never observed

bilateral cleft palate ( J:127545 )

meteorism ( J:127545 )

• some pups exhibit gastrointestinal bloating

Allelic Composition	Men1^tm1.2Ctre/Men1⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:127545 )

• mice are healthy and fertile with no apparent endocrine hyperplasia or tumor formation

Allelic Composition	Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3⁺ Tg(Myl1-lacZ)1Ibdml/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fat1^tm1Fhel mutation (0 available); any Fat1 mutation (210 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Tg(Myl1-lacZ)1Ibdml mutation (1 available)

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

Scapulohumeral muscle shape abnormalities in Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3⁺ Tg(Myl1-lacZ)1Ibdml/0 embryos

muscle

abnormal muscle development ( J:199157 )

• increased dispersal of myocytes at E12.5 in the fore limbs with development of ectopic muscles more so than in Fat1^tm1Fhel homozygotes but not as severe as in Fat1^tm1.2Fhel homozygotes

abnormal skeletal muscle morphology ( J:199157 )

• reduced occipital frontalis muscle and zygomatics

• unilateral or asymmetrical misplaced muscle fibers between the trapezius cervicalis and the trapezius thoracis

• additional muscles in the scapulohumoral region as in Fat1^tm1.2Fhel homozygotes without insertion of its extremity between the spinodeltoid and the triceps brachii muscles

• reduced myofiber density in the cutaneous maximus and in the subcutaneous part of the spinotrapezoid muscle

ectopic skeletal muscle ( J:199157 )

• additional muscles in the scapulohumoral region as in Fat1^tm1.2Fhel homozygotes without insertion of its extremity between the spinodeltoid and the triceps brachii muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:199157

Allelic Composition	Arl13b^hnn/Arl13b^tm1Tc Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arl13b^hnn mutation (0 available); any Arl13b mutation (22 available)
Arl13b^tm1Tc mutation (0 available); any Arl13b mutation (22 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:173637 )

• one surviving mouse died by P21

perinatal lethality, incomplete penetrance ( J:173637 )

• all but one mouse dies at birth after an episode of gasping unlike wild-type mice

respiratory system

respiratory distress ( J:173637 )

• all but one mouse dies at birth after an episode of gasping unlike wild-type mice

growth/size/body

decreased body size ( J:173637 )

• one surviving mouse

Allelic Composition	Nf1^tm1Fcr/Nf1^tm1Par Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Fcr mutation (1 available); any Nf1 mutation (158 available)
Nf1^tm1Par mutation (3 available); any Nf1 mutation (158 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:114455 )

• pups die at birth

endocrine/exocrine glands

adrenal medulla hyperplasia ( J:114455 )

• medulla is overgrown compared with wild-type

nervous system

abnormal somatic sensory system morphology ( J:114455 )

• peripheral ganglia are massively enlarged in newborns

Allelic Composition	Itm2a^tm1.1Buck/Y Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itm2a^tm1.1Buck mutation (0 available); any Itm2a mutation (7 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

Phenotypic analysis of Itm2a mutant embryos

embryo

abnormal neural tube morphology ( J:200546 )

• authors state that mice display a classic Pax3 mutant phenotype

nervous system

abnormal neural tube morphology ( J:200546 )

• authors state that mice display a classic Pax3 mutant phenotype

Allelic Composition	Itm2a^tm1.1Buck/Y Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: C57BL/6

Find Mice

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

Phenotypic analysis of Itm2a mutant embryos

normal phenotype

no abnormal phenotype detected ( J:200546 )

• viable and fertile with no obvious phenotype

Allelic Composition	Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc} mutation (0 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:194308 )

Allelic Composition	Gt(ROSA)26Sor^{tm1(MAML1)Wsp}/Gt(ROSA)26Sor⁺ Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(MAML1)Wsp} mutation (1 available); any Gt(ROSA)26Sor mutation (1046 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

nervous system

abnormal neural tube morphology ( J:130251 )

• there is a partial depletion of the progenitor zone in the neural tube of E12.5 embryos

• there is a minor decrease of under 10% in the number of dIL^B neurons found in embryos

loss of glutamate neurons ( J:130251 )

• mice exhibit a decrease in dIL^B neurons

decreased neuronal precursor cell number ( J:130251 )

• the progenitor domain is reduced compared to in wild-type mice

embryo

abnormal neural tube morphology ( J:130251 )

• there is a partial depletion of the progenitor zone in the neural tube of E12.5 embryos

• there is a minor decrease of under 10% in the number of dIL^B neurons found in embryos

Allelic Composition	Pax3^tm1(cre)Joe/Pax3⁺ Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt mutation (1 available)

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

craniofacial

short mandible ( J:143444 )

• at E16.5

short snout ( J:143444 )

• at E16.5

cardiovascular system

cardiovascular system phenotype ( J:143444 )

N	• despite overexpression in neural crest cells, no defects in outflow tract development are seen

skeleton

short mandible ( J:143444 )

• at E16.5

growth/size/body

short mandible ( J:143444 )

• at E16.5

short snout ( J:143444 )

• at E16.5

Allelic Composition	Pax3^tm1(cre)Joe/Pax3⁺ Tbx5^tm1Jse/Tbx5^tm1Jse
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)
Tbx5^tm1Jse mutation (0 available); any Tbx5 mutation (30 available)

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

limbs/digits/tail

limbs/digits/tail phenotype ( J:157917 )

N	• with conditional deletion of Tbx5 in myoblasts prior to migration to the limb field, muscle patterning is normal and resembles controls limb muscle patterns

Allelic Composition	Ctnnb1^tm4Wbm/Ctnnb1^tm4Wbm Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^tm4Wbm mutation (1 available); any Ctnnb1 mutation (51 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

nervous system

abnormal neural tube morphology ( J:96431 )

• neural tube defects are seen at mid gestation

embryo

abnormal neural tube morphology ( J:96431 )

• neural tube defects are seen at mid gestation

Allelic Composition	Nr2c2^tm1Bbm/Nr2c2^tm1Bbm Pax3^tm1(cre)Joe/Pax3⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nr2c2^tm1Bbm mutation (0 available); any Nr2c2 mutation (65 available)
Pax3^tm1(cre)Joe mutation (1 available); any Pax3 mutation (51 available)

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

integument

decreased pruritus ( J:197895 )

• puritogen-induced itch is absent

nervous system

decreased neuron number ( J:197895 )

behavior/neurological

increased chemical nociceptive threshold ( J:197895 )

• in response to formalin

abnormal mechanical nociception ( J:197895 )

• mice exhibit increased reflex withdrawal thresholds in the von Frey test of mechanical pain compared with wild-type mice

increased thermal nociceptive threshold ( J:197895 )

• mice exhibit high response latencies in a hot plate test compared with wild-type mice

• however, mice exhibit normal response in the Hargreaves and tail immersion reflex withdrawal tests

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