About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pdss2tm1.1Jdhu
targeted mutation 1.1, Jian-Dong Huang
MGI:5304516
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Pdss2tm1.1Jdhu/Pdss2tm1.2Jdhu
Tg(Pcp2-cre)3555Jdhu/0
involves: 129 * C3H/HeNCr MMTV- * C57BL/6N * FVB/N MGI:5304570
cn2
Pdss2tm1.1Jdhu/Pdss2tm1.2Jdhu
Tg(Pax2-cre)1Akg/0
involves: 129 * C57BL/6N * FVB/N MGI:5304567


Genotype
MGI:5304570
cn1
Allelic
Composition
Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Pdss2tm1.1Jdhu/Pdss2tm1.2Jdhu
Tg(Pcp2-cre)3555Jdhu/0
Genetic
Background
involves: 129 * C3H/HeNCr MMTV- * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Sor mutation (8 available); any Gt(ROSA)26Sor mutation (944 available)
Pdss2tm1.1Jdhu mutation (0 available); any Pdss2 mutation (31 available)
Pdss2tm1.2Jdhu mutation (0 available); any Pdss2 mutation (31 available)
Tg(Pcp2-cre)3555Jdhu mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 9.5 months, mice exhibit failure in motor coordination during walking and incapability to maintain balance on a rod
• gradual
• mice exhibit shorter and more variable strides with more frequent additional steps made by both forepaw and hindpaw compared with wild-type mice
• and more variable

nervous system
• at 6 months in the cerebellum
• in the cerebellum of aged mice
• at 6 months in the cerebellum

cellular
• at 6 months in the cerebellum




Genotype
MGI:5304567
cn2
Allelic
Composition
Pdss2tm1.1Jdhu/Pdss2tm1.2Jdhu
Tg(Pax2-cre)1Akg/0
Genetic
Background
involves: 129 * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdss2tm1.1Jdhu mutation (0 available); any Pdss2 mutation (31 available)
Pdss2tm1.2Jdhu mutation (0 available); any Pdss2 mutation (31 available)
Tg(Pax2-cre)1Akg mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die within 36 hours of life

nervous system
• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia
• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice
• fewer radial glial cells in the cerebellum at E12.5
• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice
• small midbrain at E17.5
• hypoplasia is more severe at the vermis (midline region) than in cerebellar hemispheres
• cell stratification is disorganized
• 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
• at E17.5
• at E17.5 and P0
• at E12.5, the subventricular zone has fewer and disorganized cells above the proliferating cell layers compared to in wild-type mice

craniofacial
• in all mice
• palatine shelves retain a vertical position and fail to fuse along the midline
• in 21 of 42

behavior/neurological
• in mice with normal palates

muscle
• at P0, lipid accumulates in the forelimb skeletal muscle

respiratory system

cellular
• at E18.5, cells of the cerebellum exhibit abnormal mitochondrial and autophagic-like vacuoles compared to in wild-type mice
• in cells of the cerebellum
• at E14.5, mice exhibit ectopic apoptosis accompanying the progression of cerebellum hypoplasia
• at E12.5, radial glial cells in the cerebellum are fewer in number and have shorter processes compared to in wild-type mice
• fewer radial glial cells in the cerebellum at E12.5
• neurons are highly compacted close to the ventricular surface and leave the dorsal region devoid of cells unlike in wild-type mice

skeleton
• in all mice
• palatine shelves retain a vertical position and fail to fuse along the midline

digestive/alimentary system
• palatine shelves retain a vertical position and fail to fuse along the midline
• in 21 of 42

growth/size/body
• palatine shelves retain a vertical position and fail to fuse along the midline
• in 21 of 42





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/30/2024
MGI 6.23
The Jackson Laboratory