Phenotypes for Pax3 Rbpj MGI:3706969 MGI Mouse

neonatal lethality, complete penetrance ( J:120053 )

• expected Mendelian ratios are born but homozygous mice do not move or breath and die shortly after birth

abnormal myogenesis ( J:120053 )

• at E11.5, progenitor cell numbers in the myotome are decreased and the number of differentiated cells is increased compared to wild-type

abnormal epaxial muscle morphology ( J:120053 )

• at E14.5 residual back muscles are small and lack progenitor cells

• limb muscles have reduced myogenic precursor cells and lack satellite cells

abnormal diaphragm morphology ( J:120053 )

• diaphragm is smaller

abnormal intercostal muscle morphology ( J:120053 )

• intercostal muscles are small

hypaxial muscle hypoplasia ( J:120053 )

• at E14.5, the size of limb muscle groups is reduced

decreased satellite cell number ( J:120053 )

• absence of satellite cells in limb, intercostals, diaphragm and deep back muscles

respiratory failure ( J:120053 )

no spontaneous movement ( J:120053 )

• no movement at birth

abnormal neuron differentiation ( J:130251 )

• at E10.5 and E11.5, mice exhibit precocious neuronal differentiation compared to in wild-type mice

• overall neurogenesis is increased in the dorsal spinal cord

• the numbers of dI2 and dI3 neurons are increased slightly while the number of dI5 neurons is increased dramatically compared to in wild-type mice

abnormal neural tube morphology ( J:130251 )

• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with the number of dI2, dI3, and dI5 neurons being increased

• the number of dI5 neurons is dramatically increased while increases in dI2 and dI3 neurons are more modest

• there is a significant decrease in the thickness of the progenitor domain of the E11.5 neural tube and a corresponding increase in the neuronal domain

• the dorsal progenitor domain of the neural tube is depleted by E12

loss of GABAergic neurons ( J:130251 )

• mice exhibit a reduction in the number of dI4 neurons compared to in wild-type mice

abnormal glutaminergic neuron morphology ( J:130251 )

• the numbers of dI3 neurons are increased slightly compared to in wild-type mice

decreased neuronal precursor cell number ( J:130251 )

• the progenitor domain is reduced compared to in wild-type mice

abnormal dorsal interneuron 4 morphology ( J:130251 )

• mice exhibit a complete loss of dI4 interneurons