Phenotypes Associated with This Genotype

Genotype
MGI:2656346

• Allelic Composition: Pax3^Sp/Pax3^Sp
• Genetic Background: involves: C57BL

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:11996 )

• Background Sensitivity: mice die earlier compared to homozygotes on a congenic C57BR background

• die around E13-E14

craniofacial

abnormal bony labyrinth ( J:114748 )

• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal

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 , J:112275 )

• at E10.5 Pax3 expressing cells are absent from the forelimb and hindlimb buds (J:18227)

• at E12.5 expression of muscle specific markers myogenin and acetylcholinesterase are absent from the forelimb buds and expression of acetylcholinesterase is also absent from the hindlimb 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)

• lack myogenic cells in the forming limb buds and hypoglossal cord at E11.5 (J:112275)

abnormal hypoglossal cord morphology ( J:112275 )

• lack myogenic cells in the hypoglossal cord at E11.5

abnormal dermomyotome development ( J:32016 , J:112275 )

• 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 (J:32016)

• foreshortening of the epaxial domain and complete loss of the hypaxial domain of the dermomyotome at E10.5 (J:112275)

skeleton

abnormal bony labyrinth ( J:114748 )

• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal

nervous system

open neural tube ( J:114748 )

• 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region

spina bifida ( J:110617 , J:112275 )

• treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation (J:110617)

hearing/vestibular/ear

abnormal bony labyrinth ( J:114748 )

• all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal

abnormal otic vesicle development ( J:114748 )

• in mice where the neural tube defect extends to the cranial region

decreased cochlea coiling ( J:114748 )

• at E12 cochlear coiling is poor

abnormal semicircular canal morphology ( J:114748 )

• present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth

abnormal utricle morphology ( J:114748 )

• difficult to distinguish and highly abnormal

abnormal vestibular saccule morphology ( J:114748 )

• difficult to distinguish and highly abnormal

abnormal endolymphatic duct morphology ( J:114748 )

• at E10, the origin of endolymphatic duct is shifted backwards and upwards and the duct is shorter and conical in shape

• at E11 the duct extends backwards and outwards rather than vertically upwards as in wild-type mice

short endolymphatic duct ( J:114748 )

• at E10, the endolymphatic duct is shorter than normal

embryo

open neural tube ( J:114748 )

• 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region

spina bifida ( J:110617 , J:112275 )

• treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation (J:110617)

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