PreprintCited by 641Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and TreatmentsDevelopmental Biology and Gene Regulation

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Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.

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Brannan, C I, Perkins, A S, Vogel, K S, Ratner, N, Nordlund, M L, Reid, S W, Buchberg, A M, Jenkins, N A, Parada, L F, Copeland, N G·1994·Genes & Development

DOI 10.1101/gad.8.9.1019

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Abstract

The neurofibromatosis (NF1) gene shows significant homology to mammalian GAP and is an important regulator of the ras signal transduction pathway. To study the function of NF1 in normal development and to try and develop a mouse model of NF1 disease, we have used gene targeting in ES cells to generate mice carrying a null mutation at the mouse Nf1 locus. Although heterozygous mutant mice, aged up to 10 months, likely attributable to a severe malformation of the heart. Interestingly, mutant embryos also display hyperplasia of neural crest-derived sympathetic ganglia. These results identify new roles for NF1 in development and indicate that some of the abnormal growth phenomena observed in NF1 patients can be recapitulated in neurofibromin-deficient mice.

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Authors: Brannan, C. I., Perkins, A. S., Vogel, K. S., Ratner, N., Nordlund, M. L., Reid, S. W., Buchberg, A. M., Jenkins, N. A., Parada, L. F., & Copeland, N. G.
Affiliations: Cold Spring Harbor Laboratory (US)
ORCID: Perkins, A S
Ratner, N
Buchberg, A M
Jenkins, N A
Parada, L F
Venue: Genes & Development
Publisher: Cold Spring Harbor Laboratory
Published: 1994-05-01
Volume: 8
Issue: 9
Pages: 1019-1029
ISSN: 0890-9369 (ISSN-L)
1549-5477
DOI: 10.1101/gad.8.9.1019
OpenAlex: W2159562139
Cited by: 641
References: 42
Citations by year: 2026: 2 · 2025: 9 · 2024: 17 · 2023: 10 · 2022: 10 · 2021: 19 · 2020: 14 · 2019: 9 · 2018: 16 · 2017: 11 · 2016: 17 · 2015: 14 · 2014: 17 · 2013: 23 · 2012: 33
Type: posted content
Language: en
Open access: bronze
doi.org
Locations: Genes & Development (publishedVersion)
PubMed (publishedVersion)
Funders: U.S. Department of Health and Human Services
James S. McDonnell Foundation
National Institutes of Health (n01co074101-034)
National Cancer Institute (N01 CO-74101)
National Institute of Neurological Disorders and Stroke (NS-28840, R01NS028840)
Topics: Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
Health Sciences › Medicine › Oncology › Neuroblastoma Research and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
Keywords: neurofibromatosis type 1, NF1 gene, neurofibromin, null mutations, cardiac anomalies, neural crest, Ras signaling, developmental abnormalities, mouse model
MeSH terms: Alleles, Animals, Base Sequence, Female, Embryonic and Fetal Development, Fetal Heart, Ganglia, Sympathetic, Heart Defects, Congenital, Homozygote, Kidney, Liver, Male, Mice, Inbred C57BL, Mice, Transgenic, Mitotic Index, Molecular Sequence Data, Mutation, Neural Crest, Genes, Neurofibromatosis 1, Gene Targeting, Muscle, Skeletal, Mice

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Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.

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