Phenotypes Associated with This Genotype

Genotype
MGI:2451349

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

• ♀: 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