scholarly journals Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome

2020 ◽  
Vol 112 (16) ◽  
pp. 1194-1208 ◽  
Author(s):  
Gelila Yitsege ◽  
Bethany A. Stokes ◽  
Julia A. Sabatino ◽  
Kelsey F. Sugrue ◽  
Gabor Banyai ◽  
...  
Keyword(s):  
Vitamin A ◽  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Maternal Vitamin

scholarly journals Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome

2021 ◽  
pp. dmm.047357
Author(s):  
Beverly A. Karpinski ◽  
Thomas M. Maynard ◽  
Corey A. Bryan ◽  
Gelila Yitsege ◽  
Anelia Horvath ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neural Crest ◽  
Sensory Neuron ◽  
Cranial Nerve ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Neuron Differentiation ◽  
Pediatric Dysphagia ◽  
Cell Cell

22q11.2 Deletion Syndrome (22q11DS) is a neurodevelopmental disorder associated with cranial nerve anomalies and disordered oropharyngeal function including pediatric dysphagia. Using the LgDel 22q11DS mouse model, we asked whether sensory neuron differentiation in the trigeminal ganglion (CNgV) , which is essential for normal orofacial function, is disrupted. We did not detect changes in cranial placode cell translocation or neural crest migration at early stages of LgDel CNgV development. As the ganglion coalesces, however, proportions of placode-derived LgDel CNgV cells increase relative to neural crest cells. In addition, local aggregation of placode-derived cells increases and aggregation of neural crest-derived cells decreases in LgDel CNgV. This change in cell-cell relationships was accompanied by altered proliferation of placode-derived cells at E9.5, and premature neurogenesis from neural crest-derived precursors, reflected by increased frequency of asymmetric neurogenic divisions for neural crest-derived precursors by E10.5. These early differences in LgDel CNgV genesis prefigure changes in sensory neuron differentiation and gene expression by P8, when early signs of cranial nerve dysfunction associated with pediatric dysphagia are observed in LgDel mice. Apparently, 22q11 deletion destabilizes CNgV sensory neuron genesis and differentiation by increasing variability in cell-cell interaction, proliferation, and sensory neuron differentiation. This early developmental divergence and its consequences may contribute to oropharyngeal dysfunction including suckling, feeding and swallowing disruptions at birth and additional orofacial sensory/motor deficits throughout life.

248. Brain-Behavior Phenotypes in 22q11.2 Deletion Syndrome, Idiopathic Psychosis and a Mouse Model

2019 ◽  
Vol 85 (10) ◽  
pp. S103
Author(s):  
Raquel Gur ◽  
Sunny Tang ◽  
Monica Calkins ◽  
David Roalf ◽  
Eric Schmitt ◽  
...  
Keyword(s):  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Brain Behavior

scholarly journals Persistent Feeding and Swallowing Deficits in a Mouse Model of 22q11.2 Deletion Syndrome

2020 ◽  
Vol 11 ◽  
Author(s):  
Lauren Welby ◽  
Hailey Caudill ◽  
Gelila Yitsege ◽  
Ali Hamad ◽  
Filiz Bunyak ◽  
...  
Keyword(s):  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome

PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e80104 ◽  
Author(s):  
Jennifer C. Fuchs ◽  
Fhatarah A. Zinnamon ◽  
Ruth R. Taylor ◽  
Sarah Ivins ◽  
Peter J. Scambler ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Hearing loss promotes schizophrenia-relevant brain and behavioral abnormalities in a mouse model of human 22q11.2 Deletion Syndrome

2019 ◽  
Author(s):  
Fhatarah A. Zinnamon ◽  
Freya G. Harrison ◽  
Sandra S. Wenas ◽  
Arne F. Meyer ◽  
Qing Liu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
Auditory Cortex ◽  
Conductive Hearing Loss ◽  
Sensorimotor Gating ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Behavioral Abnormalities ◽  
Conductive Hearing

ABSTRACTHearing loss has been implicated as a risk factor for schizophrenia, but it is not known whether this association arises from common etiology, top-down influences (e.g., social isolation), bottom-up neurobiological mechanisms, or combinations of these factors. Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. Here, we used the Df1/+ mouse model of 22q11.2DS to investigate the relationship between hearing loss and susceptibility to schizophrenia-relevant brain and behavioral abnormalities. Df1/+ mice have a multi-gene deletion analogous to the chromosomal microdeletion that causes human 22q11.2DS, and like human 22q11.2DS patients exhibit high rates of hearing loss arising primarily from susceptibility to middle ear inflammation. We found that hearing loss in Df1/+ mice affected schizophrenia-relevant endophenotypes, including electrophysiological measures of central auditory gain and behavioral measures of auditory sensorimotor gating. Moreover, PV+ inhibitory interneurons, another marker for schizophrenia pathology, were significantly reduced in density in auditory cortex but not secondary motor cortex of Df1/+ mice with hearing loss. These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex.SIGNIFICANCE STATEMENTHearing loss is a known risk factor for schizophrenia. Deletion of chromosomal locus 22q11.2 is associated with both schizophrenia and hearing loss in humans. In the Df1/+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. Moreover, we report a reduction in density of PV+ inhibitory interneurons in the auditory cortex, but not secondary motor cortex, of Df1/+ mice with hearing loss. These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex.

scholarly journals Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

PLoS Genetics ◽  
2017 ◽  
Vol 13 (3) ◽  
pp. e1006687 ◽  
Author(s):  
Silvia E. Racedo ◽  
Erica Hasten ◽  
Mingyan Lin ◽  
Gnanapackiam Sheela Devakanmalai ◽  
Tingwei Guo ◽  
...  
Keyword(s):  
Mouse Model ◽  
22Q11.2 Deletion Syndrome ◽  
Outflow Tract ◽  
Deletion Syndrome ◽  
Null Mouse ◽  
22Q11.2 Deletion ◽  
Cardiac Outflow

scholarly journals Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome

2020 ◽  
Vol 29 (9) ◽  
pp. 1580-1580
Author(s):  
Thomas M Maynard ◽  
Anelia Horvath ◽  
James P Bernot ◽  
Beverly A Karpinski ◽  
Andre L P Tavares ◽  
...  
Keyword(s):  
Mouse Model ◽  
Sensory Neurons ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Transcriptional Dysregulation
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