All Phenotypes Pax3<Sp-d> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pax3^Sp-d
delayed splotch
MGI:1856174

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^Sp-d/Pax3^Sp-d	C57BL/6J-Pax3^Sp-d	MGI:2451349
ht2	Pax3^Sp-d/Pax3⁺	C57BL/6J-Pax3^Sp-d	MGI:2451350
cn3	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^Sp-d/Pax3^Sp-d Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J	MGI:5775444
cn4	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Pax3^Sp-d/Pax3^Sp-d Tg(Prrx1-cre)1Cjt/0	involves: 129S4/SvJaeSor * C57BL/6J * SJL/J	MGI:5775443

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^Sp-d mutation (1 available); any Pax3 mutation (50 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:238 )

• survive to birth

nervous system

abnormal neural tube morphology ( J:70476 )

• 88.8% exhibit a neural tube defect

spina bifida ( J:70476 )

• seen in some mutants

caudal rachischisis ( J:238 )

• caudal rachischisis in all mutants

exencephaly ( J:70476 )

• mutants sometimes show exencephaly and spina bifida or exencephaly and a curly tail

abnormal dorsal root ganglion morphology ( J:70476 )

• in 15 and 16 day old embryos, spinal gangalia of the lumbosacral region were reduced in size, residual or missing

• this phenotype is less severe than seen in Pax3^Sp mutants

disorganized dorsal root ganglion ( J:70476 )

• dorsal roots are more disorganized and appear less frequently than in wild-type

limbs/digits/tail

curly tail ( J:70476 )

• seen in some mutants

embryo

abnormal neural tube morphology ( J:70476 )

• 88.8% exhibit a neural tube defect

spina bifida ( J:70476 )

• seen in some mutants

caudal rachischisis ( J:238 )

• caudal rachischisis in all mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:238 , J:70476
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:238

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3^Sp-d mutation (1 available); any Pax3 mutation (50 available)

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

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

Allelic Composition	Gata4^tm1.1Sad/Gata4^tm1.2Sad Pax3^Sp-d/Pax3^Sp-d Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gata4^tm1.1Sad mutation (1 available); any Gata4 mutation (36 available)
Gata4^tm1.2Sad mutation (0 available); any Gata4 mutation (36 available)
Pax3^Sp-d mutation (1 available); any Pax3 mutation (50 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

muscle

muscle phenotype ( J:231793 )

N	• mice do not develop diaphragmatic hernias

respiratory system

respiratory system phenotype ( J:231793 )

N	• mice do not exhibit lung defects

Allelic Composition	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Pax3^Sp-d/Pax3^Sp-d Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (944 available)
Pax3^Sp-d mutation (1 available); any Pax3 mutation (50 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

muscle

abnormal diaphragm morphology ( J:231793 )

• muscleless diaphragms

• however, pleuroperitoneal fold-derived muscle connective tissue is present and mice do not develop diaphragmatic hernias

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