Mouse Genome Informatics
hm
    Pax3Sp-2H/Pax3Sp-2H
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

embryogenesis
• rachischisis is observed along with other abnormalities

nervous system
• rachischisis is observed along with other abnormalities

muscle
• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
• at E12.5 expression of myogenin is absent from the forelimb buds (J:18227)
• limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin) (J:32016)
• however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation (J:32016)
• at E9.25, premature termination of the dermamyotome at the same level as the ventral lip of the axial myotome with absence of any epithelial structure in the ventral portion

cellular
• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection

Mouse Models of Human Disease
OMIM IDRef(s)
Waardenburg Syndrome, Type 1; WS1 193500 J:14096
NOT Waardenburg Syndrome, Type 3; WS3 148820 J:14096