Phenotypes Associated with This Genotype

Genotype
MGI:5304567

• Allelic Composition: Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129 * C57BL/6N * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:179845 )

• all mice die within 36 hours of life

nervous system

abnormal radial glial cell morphology ( J:179845 )

• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice

decreased radial glial cell number ( J:179845 )

• fewer radial glial cells in the cerebellum at E12.5

increased neuron apoptosis ( J:179845 )

• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia

abnormal Purkinje cell migration ( J:179845 )

• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice

decreased midbrain size ( J:179845 )

• small midbrain at E17.5

midbrain hypoplasia ( J:179845 )

• hypoplasia is more severe at the vermis (midline region) than in cerebellar hemispheres

abnormal cerebellum morphology ( J:179845 )

• cell stratification is disorganized

abnormal cerebellum development ( J:179845 )

• cerebellum growth retardation begins at E12.5 and E14.5 due to decreased cell proliferation, increased ectopic apoptosis (beginning at E14.5), and impaired expansion of cerebellum volume

• at E14.5, expansion of the intermediate zone is delayed compared to in wild-type mice

abnormal cerebellar foliation ( J:179845 )

• at P0

absent Purkinje cell layer ( J:179845 )

cerebellum vermis hypoplasia ( J:179845 )

small cerebellum ( J:179845 )

• at E17.5

cerebellum hypoplasia ( J:179845 )

• at E17.5 and P0

abnormal embryonic/fetal subventricular zone morphology ( J:179845 )

• at E12.5, the subventricular zone has fewer and disorganized cells above the proliferating cell layers compared to in wild-type mice

craniofacial

short mandible ( J:179845 )

micrognathia ( J:179845 )

• in all mice

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42

behavior/neurological

absent gastric milk in neonates ( J:179845 )

• in mice with normal palates

dysphagia ( J:179845 )

muscle

abnormal skeletal muscle morphology ( J:179845 )

• at P0, lipid accumulates in the forelimb skeletal muscle

respiratory system

respiratory distress ( J:179845 )

cellular

abnormal cell morphology ( J:179845 )

• at E18.5, cells of the cerebellum exhibit abnormal mitochondrial and autophagic-like vacuoles compared to in wild-type mice

abnormal radial glial cell morphology ( J:179845 )

• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice

decreased radial glial cell number ( J:179845 )

• fewer radial glial cells in the cerebellum at E12.5

abnormal mitochondrial morphology ( J:179845 )

• in cells of the cerebellum

increased neuron apoptosis ( J:179845 )

• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia

abnormal Purkinje cell migration ( J:179845 )

• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice

skeleton

short mandible ( J:179845 )

micrognathia ( J:179845 )

• in all mice

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

digestive/alimentary system

dysphagia ( J:179845 )

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42

growth/size/body

abnormal palatine bone horizontal plate morphology ( J:179845 )

• palatine shelves retain a vertical position and fail to fuse along the midline

cleft palate ( J:179845 )

• in 21 of 42