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Phenotypes Associated with This Genotype
Genotype
MGI:5705622
Allelic
Composition
PcntGt(RRU388)Byg/PcntGt(RRU388)Byg
Genetic
Background
B6.129P2-PcntGt(RRU388)Byg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PcntGt(RRU388)Byg mutation (0 available); any Pcnt mutation (120 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death at E17.5 associated with cardiovascular anomalies

growth/size/body
• in 50-100% of mutant embryos
• glomerular and ductal cysts in 50-100% of mutant embryos
• intrauterine growth retardation (35% smaller than wild-type controls)

cardiovascular system
• increased density of vascular plexuses in the head and abdomen at E11.5
• variable structural and hemodynamic cardiovascular defects from E11.5 to E17.5
• variable structural heart defects
• misoriented divisions are significantly increased in the developing cardiac septum at E12.5, and occur concomitantly with misdirected growth of the septum
• atrial septal defects at E17.5
• atrioventricular septal defects from E11.5 to E17.5
• whole-body hemorrhaging from E11.5 to E17.5
• intracranial hemorrhaging from E11.5 to E17.5
• abnormal mitral valve regurgitation at E15.5
• abnormal aortic regurgitation E17.5

craniofacial
• in 50-100% of mutant embryos

digestive/alimentary system
• in 50-100% of mutant embryos

homeostasis/metabolism
• in 50-100% of mutant embryos

limbs/digits/tail
• hindlimb and forelimb polydactyly in 50-100% of mutant embryos

nervous system
• intracranial hemorrhaging from E11.5 to E17.5
• low level expression of MAP2 (a phenotypic marker for differentiated neurons) in E17 mutant cortex and hippocampus, suggesting a delay in neuronal differentiation and/or neurogenesis defects
• reduced neuron-specific TUJ1 staining in E17 mutant neuroepithelium where nascent neurons arise
• reduced neuron-specific TUJ1 staining in E17 mutant neuroepithelium where nascent neurons arise
• defective brain development at E17
• significant increase in asymmetric divisions at the ventricular zone at E13.5
• microcephalic brains at E17
• enlarged cerebral ventricles at E17
• severe dysplasia of hippocampus at E17
• thinning of the cerebral cortex at E17

renal/urinary system
• variable structural kidney defects
• glomerular and ductal cysts in 50-100% of mutant embryos
• duplicated kidney in 50-100% of mutant embryos

respiratory system
• lack of lung surfactant in 50-100% of mutant embryos
• lung atelectasis in 50-100% of mutant embryos

vision/eye
• variable eye defects
• seen in one or both eyes
• in 50-100% of mutant embryos
• seen in one or both eyes

skeleton
• misaligned sternum ribs in 50-100% of mutant embryos

cellular
• in primary mutant MEFs, mitotic spindles show spindle misorientation and a ~4-fold decrease in both astral microtubule (MT) immunofluorescence intensity and MT length between spindle pole and cortex relative to wild-type MEFs
• the spindle angle relative to the cell-substrate adhesion plane in ~80% of mutant MEFs is >10 degrees, whereas spindles in wild-type MEFs are largely (~50%) parallel to the substratum (0 degrees)
• a unique set of centrosome proteins (ninein, Cep215, centriolin) are nearly lost from mitotic spindle poles in mutant MEFs
• asymmetric spindles and misoriented divisions are significantly increased in mutant microcephalic brains and developing hearts
• low level expression of MAP2 (a phenotypic marker for differentiated neurons) in E17 mutant cortex and hippocampus, suggesting a delay in neuronal differentiation and/or neurogenesis defects
• reduced neuron-specific TUJ1 staining in E17 mutant neuroepithelium where nascent neurons arise

embryo
• reduced neuron-specific TUJ1 staining in E17 mutant neuroepithelium where nascent neurons arise

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
microcephalic osteodysplastic primordial dwarfism type II DOID:0060609 OMIM:210720
J:226309


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)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory