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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pdcd6iptm1.2Adz
targeted mutation 1.2, Alessandra d'Azzo
MGI:5824749
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pdcd6iptm1.2Adz/Pdcd6iptm1.2Adz either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6) MGI:5824750


Genotype
MGI:5824750
hm1
Allelic
Composition
Pdcd6iptm1.2Adz/Pdcd6iptm1.2Adz
Genetic
Background
either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdcd6iptm1.2Adz mutation (0 available); any Pdcd6ip mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pdcd6iptm1.2Adz/Pdcd6iptm1.2Adz mice develop bilateral hydrocephalus

growth/size/body
• both sexes are smaller than wild-type controls

craniofacial
• mice are often identified by the domed shape of their head, suggestive of hydrocephalus

nervous system
• abnormal positioning of the basal bodies and basal feet in the lateral wall results in altered directionality of the axonemes, asynchronous beating of the ependymal cilia, and loss of CSF vectorial flow
• starting at P8, all mice develop bilateral hydrocephalus associated with progressive build-up of cerebrospinal fluid
• however, no signs of obstruction of the Sylvius aqueduct are observed
• at 1 month of age, brain volume to body weight ratio is smaller than that of wild-type controls
• however, cerebellum is of normal size and morphology
• beta-catenin and gamma-tubulin immunofluorescence revealed ependymal cells of irregular size and shape and abnormal positioning of the basal bodies
• SEM images of the lateral wall revealed altered organization of brain ependyma motile cilia
• however, a normal 9 + 2 axoneme structure is preserved
• SEM images of the lateral wall revealed altered orientation of brain ependyma motile cilia
• TEM analysis of the basal bodies revealed abnormally orientated basal feet, unlike in wild-type controls
• starting at P8, all mice exhibit progressive enlargement of the lateral ventricles
• however, no expansion of the fourth ventricle is observed
• the choroid plexus (CP) epithelial cell layer is not organized in one plane as in wild-type controls, but appears undulated with vast membrane protrusions on the apical site
• TEM analysis revealed misaligned epithelial cells of irregular shape and size, prominent blebbing of microvilli, and an abnormally distended apical junctional complex (AJC)
• SEM images of the CP apical surface showed extensive blebbing and large gaps between epithelial cells
• beta-catenin and gamma-tubulin immunofluorescence confirmed abnormal cell shape and mislocalized ciliary basal bodies of variable size not properly polarized to the apical site
• after i.p. Evans blue dye injection, a large area of leakage is seen within and around the lateral ventricles, instead of being restricted to the CP as in wild-type controls
• striking defects in the assembly and positioning of the actomyosin-tight junction polarity complex in the CP culminate in pathologic levels of cell extrusion from the epithelial layer
• 3D confocal analysis of whole-mount CP showed Tunnel+ and Myosin IIa+ cells being extruded from epithelial cell layer, unlike in wild-type controls, and increased intracellular flux of FITC-dextran into the CP that at some points co-localizes with ZO-1, a tight junction protein, suggesting loss of the epithelial barrier
• reduced hippocampus size at 1 month of age
• thinning of the cerebral cortex at 1 month of age
• mice exhibit increased GFAP immunostaining of astrocytes in the ependymal/sub-ependymal layer of the lateral walls, suggesting damage caused by increased ventricular pressure
• starting at P8, all mice exhibit progressive build-up of cerebrospinal fluid (CSF) within the lateral ventricles
• loss of CSF vectorial flow is caused by asynchronous beating of the ependymal motile cilia

respiratory system
• SEM analysis of primary cultures of tracheal epithelial cells revealed that several cells are extruded from the apical site of the epithelial layer
• tracheal epithelial cells are of irregular size and shape and show abnormal distribution of CD9 (a marker of microvilli)

cellular
• SEM images of the lateral wall revealed altered organization of brain ependyma motile cilia
• however, a normal 9 + 2 axoneme structure is preserved
• SEM images of the lateral wall revealed altered orientation of brain ependyma motile cilia
• TEM analysis of the basal bodies revealed abnormally orientated basal feet, unlike in wild-type controls
• abnormal positioning of the basal bodies and basal feet in the lateral wall results in altered directionality of the axonemes, asynchronous beating of the ependymal cilia, and loss of CSF vectorial flow

skeleton
• mice are often identified by the domed shape of their head, suggestive of hydrocephalus





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory