Phenotypes Associated with This Genotype

Genotype
MGI:2168108

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:14096 )

• is observed

embryo

spina bifida ( J:14096 )

• rachischisis is observed along with other abnormalities

nervous system

spina bifida ( J:14096 )

• rachischisis is observed along with other abnormalities

muscle

abnormal muscle precursor cell migration ( J:32016 )

• 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

abnormal myogenesis ( J:18227 , J:32016 )

• 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)

abnormal dermomyotome development ( 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

abnormal muscle precursor cell migration ( J:32016 )

• 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		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