Phenotypes Associated with This Genotype

Genotype
MGI:3807486

• Allelic Composition: Ptf1a^tm2Macd/Ptf1a^tm2Macd
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

neonatal lethality, complete penetrance ( J:130251 )

• mice die as neonates

nervous system

abnormal neuron differentiation ( J:130251 )

• mice exhibit a reduction in the number of dIL^A neurons and an increase in the number of dIL^B neurons compared to in wild-type mice

abnormal neural tube morphology ( J:130251 )

• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with dI5 neurons expanding dorsally into the dI4 region

• E12.5 neural tubes have a dramatic reduction in dIL^A neurons and an increase in dIL^B neurons

abnormal cerebellar granule layer morphology ( J:130251 )

• the external germinal layer that contains progenitors to the granule neurons is thickened compared to controls

small cerebellum ( J:130251 )

• the cerebellum of E16.5 embryos is smaller due a decrease in the numbers of GABA producing neurons

loss of GABAergic neurons ( J:130251 )

• in the dorsal horn of the spinal cord and cerebellum

abnormal glutaminergic neuron morphology ( J:130251 )

• there is an increase in neurons that are glutamatergic in the cerebellum and dorsal horn of the spinal cord

decreased neuronal precursor cell number ( J:130251 )

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

abnormal spinal cord dorsal horn morphology ( J:130251 )

• the dorsal horn of E16.5 embyros has a dramatic loss in GABA producing neurons and an increase in neurons that are glutamatergic

endocrine/exocrine glands

abnormal pancreas development ( J:125691 )

• the dorsal pancreatic remnant is a hollow, undifferentiated epithelial tube while the ventral remnant is completely absent in E17.5 embryos

absent pancreas ( J:130251 )

• neonates have no pancreas

embryo

abnormal neural tube morphology ( J:130251 )

• the dorsal neural tube in E10.5 embyros lacks dI4 neurons with dI5 neurons expanding dorsally into the dI4 region

• E12.5 neural tubes have a dramatic reduction in dIL^A neurons and an increase in dIL^B neurons

cellular

abnormal neuron differentiation ( J:130251 )

• mice exhibit a reduction in the number of dIL^A neurons and an increase in the number of dIL^B neurons compared to in wild-type mice