Phenotypes associated with this allele

• Allele Symbol: Pax3⁺
• Allele Name: wild type
• Allele ID: MGI:1857402
• Summary: 62 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pax3^Rwa/Pax3^+	B6N.Cg-Pax3^Rwa	MGI:5906271
ht2	Pax3^Sp-2J/Pax3^+	C3H/HeJ-Pax3^Sp-2J	MGI:3713856
ht3	Pax3^Sp-10J/Pax3^+	C57BL/6J-Pax3^Sp-10J/GrsrJ	MGI:4818575
ht4	Pax3^Sp-1Xzg/Pax3^+	C57BL/6J-Pax3^Sp-1Xzg	MGI:5490565
ht5	Pax3^Sp-d/Pax3^+	C57BL/6J-Pax3^Sp-d	MGI:2451350
ht6	Pax3^Sp-J/Pax3^+	C57BL/6J-Pax3^Sp-J	MGI:3713855
ht7	Pax3^Sp/Pax3^+	C57BL-Pax3^Sp	MGI:2451329
ht8	Pax3^tm1(FOXO1A)Gcg/Pax3^+	either: (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)	MGI:3804424
ht9	Pax3^Sp-2H/Pax3^+	involves: 101 * C3H/He * CBA/Ca	MGI:3773637
ht10	Pax3^Sp-4H/Pax3^+	involves: 101/H * C3H/HeH	MGI:3588417
ht11	Pax3^tm1Buck/Pax3^+	involves: 129P2/OlaHsd	MGI:2687392
ht12	Pax3^tm2Joe/Pax3^+	involves: 129S1/Sv * 129X1/SvJ	MGI:4442465
ht13	Pax3^tm3(Pax7)Buck/Pax3^+	involves: 129S2/SvPas	MGI:3047700
ht14	Pax3^tm5Buck/Pax3^+	involves: 129S2/SvPas	MGI:3690084
ht15	Pax3^tm6(Pax8)Buck/Pax3^+	involves: 129S2/SvPas	MGI:5291833
ht16	Pax3^tm2(PAX3/FOXO1A)Buck/Pax3^+	involves: 129S2/SvPas	MGI:2687393
ht17	Pax3^tm6.1(Pax8)Buck/Pax3^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:5291831
ht18	Pax3^tm1.1Sjc/Pax3^+	involves: 129X1/SvJ * C3H * C57BL/6	MGI:3713882
ht19	Pax3^Sp/Pax3^+	involves: C3HeB * C57BL * C57BL/6J * SWV	MGI:3690099
ht20	Pax3^Sp-7H/Pax3^+	involves: C3H/HeH * C57BL/6	MGI:3057106
ht21	Pax3^Sp-2J/Pax3^+	involves: C3H/HeJ * C57BL/6J	MGI:5763614
ht22	Pax3^Sp-2H/Pax3^+	involves: C57BL/6	MGI:2169285
ht23	Pax3^Sp-3J/Pax3^+	involves: C57BL/6J	MGI:3713857
ht24	Pax3^Sp-1Wli/Pax3^+	involves: C57BL/6J * CBA/CaJ	MGI:5523972
ht25	Pax3^Sp/Pax3^+	involves: C57BL * C57BL/6J * CBA	MGI:3690101
cn26	Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:2687394
cn27	Pax3^tm5.1Buck/Pax3^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:3690083
cn28	Notch2^tm3Grid/Notch2^tm3.1Grid Pax3^tm1(cre)Joe/Pax3^+	involves: 129 * C57BL/6	MGI:3778204
cn29	Egln1^tm2.1Fsl/Egln1^tm2.1Fsl Pax3^tm1(cre)Joe/Pax3^+	involves: 129 * C57BL/6	MGI:5525140
cn30	Egln1^tm2.1Fsl/Egln1^+ Pax3^tm1(cre)Joe/Pax3^+	involves: 129 * C57BL/6	MGI:5525141
cn31	Elmo2^tm1c(EUCOMM)Hmgu/Elmo2^tm1c(EUCOMM)Hmgu Pax3^tm1(cre)Joe/Pax3^+	involves: 129 * C57BL/6N	MGI:7545143
cn32	Pax3^tm1(cre)Joe/Pax3^+ Rbpj^tm1Hon/Rbpj^tm1Hon	involves: 129P2/OlaHsd	MGI:3706969
cn33	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
cn34	Dkk1^tm1.1Svo/Dkk1^tm1.2Svo Pax3^tm1(cre)Joe/Pax3^+	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5013427
cn35	Myh3^tm1.2Sajm/Myh3^tm1.1Sajm Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6J	MGI:6695907
cn36	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
cn37	Sp8^tm1Smb/Sp8^tm2Smb Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * 129X1/SvJ	MGI:7437668
cn38	Pax3^tm1Mrc/Pax3^+ Tg(CMV-cre)1Cgn/?	involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6	MGI:3510830
cn39	Pax3^tm1Mrc/Pax3^+ Pax7^tm1(cre)Mrc/Pax7^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3510831
cn40	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
cn41	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^+ Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3804317
cn42	Ets1^tm1Most/Ets1^tm1Most Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:7541422
cn43	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5775442
cn44	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
cn45	Myf6^tm1(cre)Mrc/Myf6^+ Pax3^tm1Mrc/Pax3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3844656
cn46	Bcor^tm1.1Vjba/Y Pax3^tm1(cre)Joe/Pax3^+	involves: 129S1/Sv * C57BL/6J	MGI:7343896
cn47	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
cn48	Men1^tm1.2Ctre/Men1^+ Pax3^tm1(cre)Joe/Pax3^+	involves: 129S6/SvEvTac	MGI:7344034
cn49	Men1^tm1.2Ctre/Men1^tm1.2Ctre Pax3^tm1(cre)Joe/Pax3^+	involves: 129S6/SvEvTac	MGI:7344035
cn50	Fat1^tm1Fhel/Fat1^tm1Fhel Pax3^tm1(cre)Joe/Pax3^+ Tg(Myl1-lacZ)1Ibdml/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5524136
cn51	Arl13b^hnn/Arl13b^tm1Tc Pax3^tm1(cre)Joe/Pax3^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:5052337
cn52	Nf1^tm1Fcr/Nf1^tm1Par Pax3^tm1(cre)Joe/Pax3^+	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:3689705
cn53	Gt(ROSA)26Sor^tm4(EWSR1/ATF1)Mrc/Gt(ROSA)26Sor^+ Pax3^tm1(cre)Joe/Pax3^+	involves: C57BL/6	MGI:5495303
cn54	Itm2a^tm1.1Buck/Y Pax3^tm1(cre)Joe/Pax3^+	involves: C57BL/6	MGI:5518667
cn55	Nr2c2^tm1Bbm/Nr2c2^tm1Bbm Pax3^tm1(cre)Joe/Pax3^+	Not Specified	MGI:5517372
cn56	Pax3^tm1(cre)Joe/Pax3^+ Tbx5^tm1Jse/Tbx5^tm1Jse	Not Specified	MGI:4442424
cn57	Pax3^tm1(cre)Joe/Pax3^+ Tg(CAG-Bgeo,-Spry2,-ALPP)1Mrt/0	Not Specified	MGI:3829044
cn58	Gt(ROSA)26Sor^tm1(MAML1)Wsp/Gt(ROSA)26Sor^+ Pax3^tm1(cre)Joe/Pax3^+	Not Specified	MGI:3807513
cn59	Ctnnb1^tm4Wbm/Ctnnb1^tm4Wbm Pax3^tm1(cre)Joe/Pax3^+	Not Specified	MGI:3576470
cx60	Met^tm1Cpo/Met^+ Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129 * BALB/c * C57BL/6	MGI:3690114
cx61	Met^tm1Cpo/Met^tm1Cpo Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129 * BALB/c * C57BL/6	MGI:3690115
cx62	Kit^Wps/Kit^+ Pax3^Sp-1Wli/Pax3^+	involves: C57BL/6J * CBA/CaJ	MGI:5523974

Genotype
MGI:5906271

ht1

• Allelic Composition: Pax3^Rwa/Pax3⁺
• Genetic Background: B6N.Cg-Pax3^Rwa

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

embryo

spina bifida ( J:241031 )

• in caudal region of E18.5 embryos

integument

abnormal hind foot hair pigmentation ( J:241031 )

• unpigmented toes

abnormal tail hair pigmentation ( J:241031 )

• unpigmented spots or bands

abnormal ventral coat pigmentation ( J:241031 )

• white belly spot

transverse fur striping ( J:241031 )

• white dorsal stripe

belly spot ( J:241031 )

• white spot

limbs/digits/tail

curly tail ( J:241031 )

nervous system

spina bifida ( J:241031 )

• in caudal region of E18.5 embryos

pigmentation

abnormal hind foot hair pigmentation ( J:241031 )

• unpigmented toes

abnormal tail hair pigmentation ( J:241031 )

• unpigmented spots or bands

abnormal ventral coat pigmentation ( J:241031 )

• white belly spot

transverse fur striping ( J:241031 )

• white dorsal stripe

belly spot ( J:241031 )

• white spot

Genotype
MGI:3713856

ht2

• Allelic Composition: Pax3^Sp-2J/Pax3⁺
• Genetic Background: C3H/HeJ-Pax3^Sp-2J

pigmentation

belly spot ( J:238 )

• large belly spot

head spot ( J:238 )

• Background Sensitivity: a head blaze is usually present in addition to the belly spot on the C3H/HeJ background; occasionally the head blaze is absent.

integument

belly spot ( J:238 )

• large belly spot

head spot ( J:238 )

• Background Sensitivity: a head blaze is usually present in addition to the belly spot on the C3H/HeJ background; occasionally the head blaze is absent.

Genotype
MGI:4818575

ht3

• Allelic Composition: Pax3^Sp-10J/Pax3⁺
• Genetic Background: C57BL/6J-Pax3^Sp-10J/GrsrJ

Pax3^Sp-10J/Splchl2⁺ mice display perdominant white belly spots of varying size

pigmentation

white spotting ( J:162227 )

• in addition to the belly spot, some heterozygotes have white spotting on the feet and tail

belly spot ( J:162227 )

• white belly spots of varying sizes

limbs/digits/tail

curly tail ( J:162227 )

• some heterozygotes have a curly tail and this can straighten with age

vision/eye

vision/eye phenotype ( J:162227 )

N • normal by ophthalmoscopic examination

integument

white spotting ( J:162227 )

• in addition to the belly spot, some heterozygotes have white spotting on the feet and tail

belly spot ( J:162227 )

• white belly spots of varying sizes

Genotype
MGI:5490565

ht4

• Allelic Composition: Pax3^Sp-1Xzg/Pax3⁺
• Genetic Background: C57BL/6J-Pax3^Sp-1Xzg

pigmentation

white spotting ( J:196566 )

• a symmetrical cluster of white coat on the midline of the abdomen, as well as at distal legs and tails

• occasional small white spots on the back

belly spot ( J:196566 )

hypopigmentation ( J:196566 )

decreased tail pigmentation ( J:196566 )

limbs/digits/tail

decreased tail pigmentation ( J:196566 )

curly tail ( J:196566 )

• occasional

integument

white spotting ( J:196566 )

• a symmetrical cluster of white coat on the midline of the abdomen, as well as at distal legs and tails

• occasional small white spots on the back

belly spot ( J:196566 )

decreased tail pigmentation ( J:196566 )

Genotype
MGI:2451350

ht5

• Allelic Composition: Pax3^Sp-d/Pax3⁺
• Genetic Background: C57BL/6J-Pax3^Sp-d

pigmentation

belly spot ( J:238 )

integument

belly spot ( J:238 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:238
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:238

Genotype
MGI:3713855

ht6

• Allelic Composition: Pax3^Sp-J/Pax3⁺
• Genetic Background: C57BL/6J-Pax3^Sp-J

pigmentation

belly spot ( J:238 )

• large belly spot

integument

belly spot ( J:238 )

• large belly spot

Genotype
MGI:2451329

ht7

• 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:3804424

ht8

• Allelic Composition: Pax3^{tm1(FOXO1A)Gcg}/Pax3⁺
• Genetic Background: either: (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)

mortality/aging

neonatal lethality, incomplete penetrance ( J:79365 )

• 7 of 10 mice die at birth with uninflated lungs and the remaining die within hours of respiratory insufficiency

cardiovascular system

cardiovascular system phenotype ( J:79365 )

N • unlike in other splotched mutants, mice exhibit normal outflow tract development

dilated pulmonary trunk ( J:79365 )

• dilated at E16.5

abnormal vena cava morphology ( J:79365 )

• the caval veins are overextended

patent tricuspid valve ( J:79365 )

• mice that live a few hours beyond birth exhibit a large opening in the right tricuspid valve

abnormal interventricular septum morphology ( J:79365 )

• mice exhibit either thickened or thinned interventricular septum

muscular ventricular septal defect ( J:79365 )

• VSDs occur in the wall overlying the muscular part of the septum, some of which were present at the position where the septum attaches to the interventricular groove

thick interventricular septum ( J:79365 )

• at E16.5, the ventricular septum is thickened compared to in wild-type mice

thin ventricular wall ( J:79365 )

• in mice that live a few hours beyond birth

congestive heart failure ( J:79365 )

• despite normal outflow tract, mice exhibit congestive heart failure indicated by a blood engorged liver

muscle

abnormal skeletal muscle morphology ( J:79365 )

• mice exhibit abnormal diaphragm and tongue musculature

• however, limb musculature develops normally

abnormal tongue muscle morphology ( J:79365 )

• around the time of birth, tongue musculature is underdeveloped and disorganized

• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature

• however, tongue musculature is normal at E13.5

abnormal diaphragm development ( J:79365 )

• at E16.5, the muscles of the diaphragm is underdeveloped with fibers being both shorter and thinner than in wild-type mice and possessing gaps in the musculature

• however, diaphragm musculature is normal at E13.5

nervous system

abnormal neural tube morphology ( J:79365 )

• caudal neural tube outgrowths are present in 10% of mice

spina bifida ( J:79365 )

• in 10% of mice

exencephaly ( J:79365 )

• in 10% of mice

respiratory system

abnormal pulmonary alveolus morphology ( J:79365 )

• 7 of 10 mice exhibit compact alveoli indicating a failure to inflate

respiratory distress ( J:79365 )

• in mice that live a few hours beyond birth

homeostasis/metabolism

cyanosis ( J:79365 )

• in mice that live a few hours beyond birth

hematopoietic system

abnormal thymus lobule morphology ( J:79365 )

• the right and left lobes exhibit an abnormal, more caudal location

ectopic thymus ( J:79365 )

• mutant thymus has an abnormal, more caudal location

neoplasm

neoplasm ( J:79365 )

N • unlike in t(2;13) translocations that place FOXO1A under the control of the PAX3 promoter in humans, mice exhibit no signs of tumorigenesis

immune system

abnormal thymus lobule morphology ( J:79365 )

• the right and left lobes exhibit an abnormal, more caudal location

ectopic thymus ( J:79365 )

• mutant thymus has an abnormal, more caudal location

embryo

abnormal neural tube morphology ( J:79365 )

• caudal neural tube outgrowths are present in 10% of mice

spina bifida ( J:79365 )

• in 10% of mice

craniofacial

abnormal tongue muscle morphology ( J:79365 )

• around the time of birth, tongue musculature is underdeveloped and disorganized

• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature

• however, tongue musculature is normal at E13.5

digestive/alimentary system

abnormal tongue muscle morphology ( J:79365 )

• around the time of birth, tongue musculature is underdeveloped and disorganized

• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature

• however, tongue musculature is normal at E13.5

endocrine/exocrine glands

abnormal thymus lobule morphology ( J:79365 )

• the right and left lobes exhibit an abnormal, more caudal location

ectopic thymus ( J:79365 )

• mutant thymus has an abnormal, more caudal location

growth/size/body

abnormal tongue muscle morphology ( J:79365 )

• around the time of birth, tongue musculature is underdeveloped and disorganized

• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature

• however, tongue musculature is normal at E13.5

Genotype
MGI:3773637

ht9

• Allelic Composition: Pax3^Sp-2H/Pax3⁺
• Genetic Background: involves: 101 * C3H/He * CBA/Ca

pigmentation

belly spot ( J:46341 )

• mice had small or large belly spots

• mice with large belly spots were bred together and phenotyped

integument

belly spot ( J:46341 )

• mice had small or large belly spots

• mice with large belly spots were bred together and phenotyped

Genotype
MGI:3588417

ht10

• Allelic Composition: Pax3^Sp-4H/Pax3⁺
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

prenatal lethality, incomplete penetrance ( J:4295 )

• fewer than expected numbers born but no reduction in viability after birth

pigmentation

belly spot ( J:4295 )

• in about 50% of animals

variable body spotting ( J:4295 )

• low grade white spotting of feet and tail

integument

belly spot ( J:4295 )

• in about 50% of animals

variable body spotting ( J:4295 )

• low grade white spotting of feet and tail

Genotype
MGI:2687392

ht11

• Allelic Composition: Pax3^tm1Buck/Pax3⁺
• Genetic Background: involves: 129P2/OlaHsd

pigmentation

belly spot ( J:86911 )

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

integument

belly spot ( J:86911 )

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

Genotype
MGI:4442465

ht12

• Allelic Composition: Pax3^tm2Joe/Pax3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

pigmentation

belly spot ( J:159124 )

• white belly spot

integument

belly spot ( J:159124 )

• white belly spot

Genotype
MGI:3047700

ht13

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

pigmentation

variable depigmentation ( J:90568 )

• white spotting similar to that seen in Pax3^Sp heterozygotes is seen

integument

variable depigmentation ( J:90568 )

• white spotting similar to that seen in Pax3^Sp heterozygotes is seen

Genotype
MGI:3690084

ht14

• Allelic Composition: Pax3^tm5Buck/Pax3⁺
• Genetic Background: involves: 129S2/SvPas

pigmentation

belly spot ( J:112275 )

• display the classical splotch heterozygous phenotype

integument

belly spot ( J:112275 )

• display the classical splotch heterozygous phenotype

Genotype
MGI:5291833

ht15

• Allelic Composition: Pax3^{tm6(Pax8)Buck}/Pax3⁺
• Genetic Background: involves: 129S2/SvPas

pigmentation

belly spot ( J:176192 )

• as in mice heterozygous for a null allele

muscle

abnormal muscle development ( J:176192 )

• in the limb

abnormal myotome development ( J:176192 )

integument

belly spot ( J:176192 )

• as in mice heterozygous for a null allele

Genotype
MGI:2687393

ht16

• Allelic Composition: Pax3^{tm2(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129S2/SvPas

pigmentation

belly spot ( J:86911 )

• similar to Pax3^sp heterozygotes

integument

belly spot ( J:86911 )

• similar to Pax3^sp heterozygotes

Genotype
MGI:5291831

ht17

• Allelic Composition: Pax3^{tm6.1(Pax8)Buck}/Pax3⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

muscle

abnormal muscle development ( J:176192 )

• in the limb

abnormal myotome development ( J:176192 )

pigmentation

belly spot ( J:176192 )

• as in mice heterozygous for a null allele

integument

belly spot ( J:176192 )

• as in mice heterozygous for a null allele

Genotype
MGI:3713882

ht18

• Allelic Composition: Pax3^tm1.1Sjc/Pax3⁺
• Genetic Background: involves: 129X1/SvJ * C3H * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:75127 )

• mice are viable and fertile

Genotype
MGI:3690099

ht19

• 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:3057106

ht20

• Allelic Composition: Pax3^Sp-7H/Pax3⁺
• Genetic Background: involves: C3H/HeH * C57BL/6

pigmentation

abnormal coat/hair pigmentation ( J:93195 )

• white feet

belly spot ( J:93195 )

integument

abnormal coat/hair pigmentation ( J:93195 )

• white feet

belly spot ( J:93195 )

Genotype
MGI:5763614

ht21

• Allelic Composition: Pax3^Sp-2J/Pax3⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

integument

belly spot ( J:238 )

• a large belly spot is observed when this mutation is outcrossed to C57BL/6J.

• Background Sensitivity: the head blaze observed in mutant mice on the C3H/HeJ background is not present in the mixed background.

pigmentation

belly spot ( J:238 )

• a large belly spot is observed when this mutation is outcrossed to C57BL/6J.

• Background Sensitivity: the head blaze observed in mutant mice on the C3H/HeJ background is not present in the mixed background.

Genotype
MGI:2169285

ht22

• Allelic Composition: Pax3^Sp-2H/Pax3⁺
• Genetic Background: involves: C57BL/6

pigmentation

diluted coat color ( J:14096 )

• coat is light colored

• penetrance is only about 50%

belly spot ( J:14096 )

• white spotting occurs on the belly and often extends to the feet and tail

• this trait has incomplete penetrance

integument

diluted coat color ( J:14096 )

• coat is light colored

• penetrance is only about 50%

belly spot ( J:14096 )

• white spotting occurs on the belly and often extends to the feet and tail

• this trait has incomplete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:14096
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:14096

Genotype
MGI:3713857

ht23

• Allelic Composition: Pax3^Sp-3J/Pax3⁺
• Genetic Background: involves: C57BL/6J

pigmentation

belly spot ( J:238 )

• large belly spot

integument

belly spot ( J:238 )

• large belly spot

Genotype
MGI:5523972

ht24

• Allelic Composition: Pax3^Sp-1Wli/Pax3⁺
• Genetic Background: involves: C57BL/6J * CBA/CaJ

pigmentation

white spotting ( J:196572 )

• symmetrical cluster of white coat on the midline of the abdomen and occasionally white spots on the back

belly spot ( J:196572 )

integument

white spotting ( J:196572 )

• symmetrical cluster of white coat on the midline of the abdomen and occasionally white spots on the back

belly spot ( J:196572 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:196572

Genotype
MGI:3690101

ht25

• 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:2687394

cn26

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

mortality/aging

perinatal lethality, complete penetrance ( J:86911 )

• no live newborns are seen

muscle

abnormal muscle development ( J:86911 )

• abnormal delamination of Pax3 expressing cells results in ectopic muscle formation in the thoracic region

abnormal myogenesis ( J:86911 )

• cells expressing myogenic determination factors (Myod1 and Myf5) are seen extending from the peripheral somites into the limb bud, unlike in wild-type mice where expression is confined to the limb buds

abnormal dermomyotome development ( J:86911 )

• at E10.5, complete loss of the hypaxial epithelium is seen and ectopic Pax3 expressing cells are found outside the somite

• at E10.75, in hypaxial somites the dermomyotome is not clearly separated from the myotome and the basal lamina is absent

• at E10.75, epithelial structure is perturbed and defects are seen in the basal lamina in thoracic somites

abnormal myotome morphology ( J:86911 )

• in the cervical region at E11.5 myotomal muscles show bifurcations; however, by E12.5 morphology is largely normal

abnormal skeletal muscle morphology ( J:86911 )

• loss of ventral body muscles

• segmental form of the rectus-abdominis muscle in not identifiable

abnormal intercostal muscle morphology ( J:86911 )

• disorganized

embryo

abnormal somite development ( J:86911 )

• disorganized boundaries between the hypaxial somites; however the full extent of the somite is present

• at E10.5, abnormal delamination of Pax3 expressing cells is seen in the hypaxial region thoracic somite structure is disorganized

• at E11.5 somites of the cervical region are disorganized

abnormal somite border morphology ( J:86911 )

• disorganized boundaries between the hypaxial somites

skeleton

rib fusion ( J:86911 )

• distal rib fusions identifiable at E18.5

Genotype
MGI:3690083

cn27

• Allelic Composition: Pax3^tm5.1Buck/Pax3⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:112275 )

• no live mice at birth, no specific time of death is given

muscle

abnormal myogenesis ( J:112275 )

• lack myogenic cells in the forelimb buds; however these cells are present in the hypoglossal cord and hindlimb buds

abnormal dermomyotome development ( J:112275 )

• foreshortening of the epaxial and hypaxial domains of the dermomyotome is reduced compared to homozygous Pax3^Sp mice at E10.5

nervous system

spina bifida ( J:112275 )

• reduced compared to homozygous Pax3^Sp mice and mice do no display exencephaly

embryo

spina bifida ( J:112275 )

• reduced compared to homozygous Pax3^Sp mice and mice do no display exencephaly

Genotype
MGI:3778204

cn28

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

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

Genotype
MGI:5525140

cn29

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

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 )

Genotype
MGI:5525141

cn30

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

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

Genotype
MGI:7545143

cn31

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:331473 )

• fewer than expected mice are present at weaning

Genotype
MGI:3706969

cn32

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

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

Genotype
MGI:7545139

cn33

• 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

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

Genotype
MGI:5013427

cn34

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

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

Genotype
MGI:6695907

cn35

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

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

Genotype
MGI:7541421

cn36

• 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

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 )

• 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

Genotype
MGI:7437668

cn37

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

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

Genotype
MGI:3510830

cn38

• Allelic Composition: Pax3^tm1Mrc/Pax3⁺; Tg(CMV-cre)1Cgn/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

craniofacial

absent frontal bone ( J:93443 )

• the frontal bone is absent

absent interparietal bone ( J:93443 )

absent parietal bone ( J:93443 )

absent premaxilla ( J:93443 )

maxilla hypoplasia ( J:93443 )

abnormal nasal bone morphology ( J:93443 )

• dysgenesis of the nasal bone is seen

cranioschisis ( J:93443 )

muscle

thin diaphragm muscle ( J:93443 )

hypaxial muscle hypoplasia ( J:93443 )

skeleton

absent frontal bone ( J:93443 )

• the frontal bone is absent

absent interparietal bone ( J:93443 )

absent parietal bone ( J:93443 )

absent premaxilla ( J:93443 )

maxilla hypoplasia ( J:93443 )

abnormal nasal bone morphology ( J:93443 )

• dysgenesis of the nasal bone is seen

cranioschisis ( J:93443 )

abnormal sternum morphology ( J:93443 )

• midline fusion of the sternum is incomplete

rib fusion ( J:93443 )

• multiple rib fusions are seen

vertebral fusion ( J:93443 )

• multiple vertebral fusions are seen

vision/eye

optic placode degeneration ( J:93443 )

• the optic placode is present at E8.75 but completely degenerated by E12.5

anophthalmia ( J:93443 )

nervous system

midbrain hyperplasia ( J:93443 )

• disorganized, ectopic midbrain hyperplasia of neuroectodermal precursors is seen by E12.5

abnormal forebrain morphology ( J:93443 )

forebrain hypoplasia ( J:93443 )

• forebrain hypoplasia is visible at E9.75

abnormal cerebral cortex morphology ( J:93443 )

• the cortex is disorganized

absent olfactory bulb ( J:93443 )

• olfactory lobe agenesis is seen

exencephaly ( J:93443 )

small dorsal root ganglion ( J:93443 )

• the dorsal root ganglia is hyperplastic

growth/size/body

absent frontal bone ( J:93443 )

• the frontal bone is absent

absent premaxilla ( J:93443 )

maxilla hypoplasia ( J:93443 )

abnormal nasal bone morphology ( J:93443 )

• dysgenesis of the nasal bone is seen

omphalocele ( J:93443 )

respiratory system

abnormal nasal bone morphology ( J:93443 )

• dysgenesis of the nasal bone is seen

Genotype
MGI:3510831

cn39

• Allelic Composition: Pax3^tm1Mrc/Pax3⁺; Pax7^tm1(cre)Mrc/Pax7⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:93443 )

• because of breathing difficulties few mutants survive beyond 3.5 months of age

neoplasm

neoplasm ( J:93443 )

N • no alveolar rhabdomyosarcomas are detected

craniofacial

abnormal premaxilla morphology ( J:93443 )

• agenesis of the rostral premaxilla is seen

maxilla hypoplasia ( J:93443 )

lacrimal bone hypoplasia ( J:93443 )

• hypoplasia of the lacrimal bone is seen

abnormal nose morphology ( J:93443 )

• a narrowed nose is seen

turbinate hypoplasia ( J:93443 )

• the nasal turbinates are underdeveloped

growth/size/body

abnormal premaxilla morphology ( J:93443 )

• agenesis of the rostral premaxilla is seen

maxilla hypoplasia ( J:93443 )

lacrimal bone hypoplasia ( J:93443 )

• hypoplasia of the lacrimal bone is seen

abnormal nose morphology ( J:93443 )

• a narrowed nose is seen

turbinate hypoplasia ( J:93443 )

• the nasal turbinates are underdeveloped

decreased body weight ( J:93443 )

• at 3 weeks of age mutants weigh less than one-third of wild-type littermates

postnatal growth retardation ( J:93443 )

• severe growth retardation is seen by 3 weeks of age

muscle

decreased skeletal muscle fiber diameter ( J:93443 )

• myofiber diameter is reduced

decreased skeletal muscle mass ( J:93443 )

• muscle mass is reduced

decreased satellite cell number ( J:93443 )

• the number of satellite cells is reduced

increased skeletal muscle fiber density ( J:93443 )

• myofiber density is increased

muscle hypoplasia ( J:93443 )

respiratory system

abnormal nose morphology ( J:93443 )

• a narrowed nose is seen

turbinate hypoplasia ( J:93443 )

• the nasal turbinates are underdeveloped

skeleton

abnormal premaxilla morphology ( J:93443 )

• agenesis of the rostral premaxilla is seen

maxilla hypoplasia ( J:93443 )

lacrimal bone hypoplasia ( J:93443 )

• hypoplasia of the lacrimal bone is seen

turbinate hypoplasia ( J:93443 )

• the nasal turbinates are underdeveloped

Genotype
MGI:3804314

cn40

• 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

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

Genotype
MGI:3804317

cn41

• 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

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

Genotype
MGI:7541422

cn42

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

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

Genotype
MGI:5775442

cn43

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

muscle

muscle phenotype ( J:231793 )

N • mice exhibit normal diaphragm development

Genotype
MGI:5774472

cn44

• 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:3844656

cn45

• Allelic Composition: Myf6^tm1(cre)Mrc/Myf6⁺; Pax3^tm1Mrc/Pax3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

neoplasm

increased rhabdomyosarcoma incidence ( J:93444 )

• 1 in 228 mice develop an rhabdomyosarcoma that arises from the pectoralis major muscle by day 383

muscle

increased rhabdomyosarcoma incidence ( J:93444 )

• 1 in 228 mice develop an rhabdomyosarcoma that arises from the pectoralis major muscle by day 383

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alveolar rhabdomyosarcoma		DOID:4051	OMIM:268220	J:93444

Genotype
MGI:7343896

cn46

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

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

Genotype
MGI:7344040

cn47

• 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

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

Genotype
MGI:7344034

cn48

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

normal phenotype

no abnormal phenotype detected ( J:127545 )

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

Genotype
MGI:7344035

cn49

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

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

Genotype
MGI:5524136

cn50

• 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

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

Genotype
MGI:5052337

cn51

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

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

Genotype
MGI:3689705

cn52

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

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

Genotype
MGI:5495303

cn53

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

mortality/aging

embryonic lethality, complete penetrance ( J:194308 )

Genotype
MGI:5518667

cn54

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

Phenotypic analysis of Itm2a mutant embryos

normal phenotype

no abnormal phenotype detected ( J:200546 )

♂ • viable and fertile with no obvious phenotype

Genotype
MGI:5517372

cn55

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

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

Genotype
MGI:4442424

cn56

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

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

Genotype
MGI:3829044

cn57

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

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

Genotype
MGI:3807513

cn58

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

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

Genotype
MGI:3576470

cn59

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

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

Genotype
MGI:3690114

cx60

• Allelic Composition: Met^tm1Cpo/Met⁺; Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129 * BALB/c * C57BL/6

embryo

embryo phenotype ( J:86911 )

N • ectopic somite delamination is not seen, unlike in Pax3^{tm2.1(PAX3/FOXO1A)Buck} single heterozygotes

Genotype
MGI:3690115

cx61

• Allelic Composition: Met^tm1Cpo/Met^tm1Cpo; Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129 * BALB/c * C57BL/6

embryo

embryo phenotype ( J:86911 )

N • complete rescue of the Pax3^{tm2.1(PAX3/FOXO1A)Buck} single heterozygote somite phenotype

Genotype
MGI:5523974

cx62

• Allelic Composition: Kit^Wps/Kit⁺; Pax3^Sp-1Wli/Pax3⁺
• Genetic Background: involves: C57BL/6J * CBA/CaJ

pigmentation

white spotting ( J:196572 )

• extensive white spotting than in mice heterozygous for either allele with pigment loss throughout the belly and much of the back and occasionally the head

belly spot ( J:196572 )

integument

white spotting ( J:196572 )

• extensive white spotting than in mice heterozygous for either allele with pigment loss throughout the belly and much of the back and occasionally the head

belly spot ( J:196572 )