Phenotypes associated with this allele

• Allele Symbol: Pdss2^tm1.2Jdhu
• Allele Name: targeted mutation 1.2, Jian-Dong Huang
• Allele ID: MGI:5304520
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdss2^tm1.2Jdhu/Pdss2^tm1.2Jdhu	involves: 129 * C57BL/6N * FVB/N	MGI:5304571
cn2	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu Tg(Pcp2-cre)3555Jdhu/0	involves: 129 * C3H/HeNCr MMTV^- * C57BL/6N * FVB/N	MGI:5304570
cn3	Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu Tg(Pax2-cre)1Akg/0	involves: 129 * C57BL/6N * FVB/N	MGI:5304567

Genotype
MGI:5304571

hm1

• Allelic Composition: Pdss2^tm1.2Jdhu/Pdss2^tm1.2Jdhu
• Genetic Background: involves: 129 * C57BL/6N * FVB/N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:179845 )

• no mice are recovered after E9.5

Genotype
MGI:5304570

cn2

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Pdss2^tm1.1Jdhu/Pdss2^tm1.2Jdhu; Tg(Pcp2-cre)3555Jdhu/0
• Genetic Background: involves: 129 * C3H/HeNCr MMTV^- * C57BL/6N * FVB/N

behavior/neurological

abnormal motor coordination/balance ( J:179845 )

• at 9.5 months, mice exhibit failure in motor coordination during walking and incapability to maintain balance on a rod

ataxia ( J:179845 )

• gradual

impaired balance ( J:179845 )

abnormal gait ( J:179845 )

• mice exhibit shorter and more variable strides with more frequent additional steps made by both forepaw and hindpaw compared with wild-type mice

short stride length ( J:179845 )

• and more variable

nervous system

increased neuron apoptosis ( J:179845 )

• at 6 months in the cerebellum

Purkinje cell degeneration ( J:179845 )

• in the cerebellum of aged mice

decreased Purkinje cell number ( J:179845 )

• at 6 months in the cerebellum

cellular

increased neuron apoptosis ( J:179845 )

• at 6 months in the cerebellum

Genotype
MGI:5304567

cn3

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

mortality/aging

postnatal lethality, complete penetrance ( J:179845 )

• all mice die within 36 hours of life

nervous system

increased neuron apoptosis ( J:179845 )

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

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 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 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 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 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