A phenotypic and molecular characterization of the fmr1‐tm1Cgr Fragile X mouse

Yan, Q. J.; Asafo‐Adjei, P. K.; Arnold, H. M.; Brown, R. E.; Bauchwitz, R. P.

doi:10.1111/j.1601-183x.2004.00087.x

Cited by 213Genetics and Neurodevelopmental DisordersWilliams Syndrome ResearchDown syndrome and intellectual disability research

A phenotypic and molecular characterization of the fmr1‐tm1Cgr Fragile X mouse

Yan, Q. J., Asafo‐Adjei, P. K., Arnold, H. M., Brown, R. E., Bauchwitz, R. P.·2004·Genes, Brain and Behavior

DOI 10.1111/j.1601-183x.2004.00087.x

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Abstract

Fragile X Syndrome is the most common form of inherited mental retardation. It is also known for having a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always caused by inactivation of the X-linked FMR1 gene. A single knockout mouse model, fmr1-tm1Cgr, exists. In this report we further characterize the cognitive and behavioral phenotype of the fmr1-tm1Cgr Fragile X mouse through the use of F1 hybrid mice derived from two inbred strains (FVB/NJ and C57BL/6J). Use of F1 hybrids allows focus on the effects of the fmr1-tm1Cgr allele with reduced influence from recessive alleles present in the parental inbred strains. We find that the cognitive phenotype of fmr1-tm1Cgr mice, including measures of working memory and learning set formation that are known to be seriously impacted in humans with Fragile X Syndrome, are essentially normal. Further testing of inbred strains supports this conclusion. Thus, any fmr1-tm1Cgr cognitive deficit is surprisingly mild or absent. There is, however, clear support presented for a robust audiogenic seizure phenotype in all strains tested, as well as increased entries into the center of an open field. Finally, a molecular examination of the fmr1-tm1Cgr mouse shows that, contrary to common belief, it is not a molecular null. Implications of this finding for interpretation of the phenotype are discussed.

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In research by Pietropaolo et al. (2011), the Fmr1 KO on the B6 background was found to be a good model for Fragile X syndrome and a suitable model for ASD.
“They found the Fmr1 KO on the B6 background to be a good model for FXS and a suitable model for ASD (Pietropaolo et al., 2011; Yan et al., 2004).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Yan et al., 2004

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Authors: Yan, Q. J., Asafo‐Adjei, P. K., Arnold, H. M., Brown, R. E., & Bauchwitz, R. P.
Affiliations: Columbia University (US)
Dalhousie University (CA)
Corresponding author: Bauchwitz, R. P.
ORCID: Brown, R. E.
Bauchwitz, R. P.
Venue: Genes, Brain and Behavior
Publisher: Wiley
Published: 2004-11-12
Volume: 3
Issue: 6
Pages: 337-359
ISSN: 1601-183X (ISSN-L)
1601-1848
DOI: 10.1111/j.1601-183x.2004.00087.x
OpenAlex: W2131956972
Cited by: 213
References: 115
Citations by year: 2026: 6 · 2025: 3 · 2024: 8 · 2023: 5 · 2022: 8 · 2021: 5 · 2020: 9 · 2019: 11 · 2018: 12 · 2017: 11 · 2016: 8 · 2015: 10 · 2014: 15 · 2013: 10 · 2012: 12
FWCI: 3.20
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Genes Brain & Behavior (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: fragile X syndrome, FMR1 gene, F1 hybrid mice, C57BL/6J mice, working memory, learning set formation, audiogenic seizures, cognitive phenotypes, behavioral phenotypes, intellectual disability, autism spectrum disorder
MeSH terms: Animals, Anxiety, Association Learning, Disease Models, Animal, Female, Fragile X Syndrome, Learning Disabilities, Male, Memory, Short-Term, Mice, Inbred C57BL, Nerve Tissue Proteins, Organ Size, Phenotype, RNA, Messenger, Testis, RNA-Binding Proteins, Mice, Knockout, Maze Learning, Mice, Fragile X Messenger Ribonucleoprotein 1

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A phenotypic and molecular characterization of the fmr1‐tm1Cgr Fragile X mouse

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