Mouse Genome Informatics
hm
    Pax3Sp-d/Pax3Sp-d
C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• survive to birth

nervous system
• 88.8% exhibit a neural tube defect
• seen in some mutants
• caudal rachischisis in all mutants
• mutants sometimes show exencephaly and spina bifida or exencephaly and a curly tail
• 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 Pax3Sp mutants
• dorsal roots are more disorganized and appear less frequently than in wild-type

limbs/digits/tail
• seen in some mutants

embryogenesis
• 88.8% exhibit a neural tube defect
• seen in some mutants
• caudal rachischisis in all mutants

Mouse Models of Human Disease
OMIM IDRef(s)
Waardenburg Syndrome, Type 1; WS1 193500 J:238 , J:70476
NOT Waardenburg Syndrome, Type 3; WS3 148820 J:238