Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants Article Swipe
Lukas F. Reissig
,
Stefan H. Geyer
,
Viola Winkler
,
Ester Preineder
,
Fabrice Prin
,
Robert Wilson
,
Antonella Galli
,
Catherine Tudor
,
Jaqueline K. White
,
Timothy J. Mohun
,
Wolfgang J. Weninger
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3389/fcell.2022.1006620
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3389/fcell.2022.1006620
Careful phenotype analysis of genetically altered mouse embryos/fetuses is vital for deciphering the function of pre- and perinatally lethal genes. Usually this involves comparing the anatomy of mutants with that of wild types of identical developmental stages. Detailed three dimensional information on regular cranial nerve (CN) anatomy of prenatal mice is very scarce. We therefore set out to provide such information to be used as reference data and selected mutants to demonstrate its potential for diagnosing CN abnormalities. Digital volume data of 152 wild type mice, harvested on embryonic day (E)14.5 and of 18 mutants of the Col4a2 , Arid1b , Rpgrip1l and Cc2d2a null lines were examined. The volume data had been created with High Resolution Episcopic Microscopy (HREM) as part of the deciphering the mechanisms of developmental disorders (DMDD) program. Employing volume and surface models, oblique slicing and digital measuring tools, we provide highly detailed anatomic descriptions of the CNs and measurements of the diameter of selected segments. Specifics of the developmental stages of E14.5 mice and anatomic norm variations were acknowledged. Using the provided data as reference enabled us to objectively diagnose CN abnormalities, such as abnormal formation of CN3 ( Col4a2 ), neuroma of the motor portion of CN5 ( Arid1b ), thinning of CN7 ( Rpgrip1l ) and abnormal topology of CN12 ( Cc2d2a ). Although, in a first glimpse perceived as unspectacular, defects of the motor CN5 or CN7, like enlargement or thinning can cause death of newborns, by hindering feeding. Furthermore, abnormal topology of CN12 was recently identified as a highly reliable marker for low penetrating, but potentially lethal defects of the central nervous system.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fcell.2022.1006620
- OA Status
- gold
- Cited By
- 6
- References
- 42
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4308724050
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4308724050Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fcell.2022.1006620Digital Object Identifier
- Title
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Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutantsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
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2022-11-09Full publication date if available
- Authors
-
Lukas F. Reissig, Stefan H. Geyer, Viola Winkler, Ester Preineder, Fabrice Prin, Robert Wilson, Antonella Galli, Catherine Tudor, Jaqueline K. White, Timothy J. Mohun, Wolfgang J. WeningerList of authors in order
- Landing page
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https://doi.org/10.3389/fcell.2022.1006620Publisher landing page
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
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https://doi.org/10.3389/fcell.2022.1006620Direct OA link when available
- Concepts
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Biology, Mutant, Anatomy, Phenotype, Embryo, Neuroscience, Pathology, Genetics, Gene, MedicineTop concepts (fields/topics) attached by OpenAlex
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6Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 2, 2023: 3Per-year citation counts (last 5 years)
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42Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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