FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2128232016> ?p ?o ?g. }

• W2128232016 endingPage "e29538" @default.
• W2128232016 startingPage "e29538" @default.
• W2128232016 abstract "Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether the mutant mice provide an accurate model of the human disease is unclear; resolving this will require additional functional tests of the neuromuscular system and examination of Cntn1 mutations on different genetic backgrounds that may influence the phenotype. Toward these ends, we have analyzed a new, spontaneous mutation in the mouse Cntn1 gene that arose in a BALB/c genetic background. The overt phenotype is very similar to the knockout of Cntn1, with affected animals having reduced body weight, a failure to thrive, locomotor abnormalities, and a lifespan of 2-3 weeks. Mice homozygous for the new allele have CNTN1 protein undetectable by western blotting, suggesting that it is a null or very severe hypomorph. In an analysis of neuromuscular function, neuromuscular junctions had normal morphology, consistent with previous studies in knockout mice, and the muscles were able to generate appropriate force when normalized for their reduced size in late stage animals. Therefore, the Cntn1 mutant mice do not show evidence for a myopathy, but instead the phenotype is likely to be caused by dysfunction in the nervous system. Given the similarity of CNTN1 to other Ig-superfamily proteins such as DSCAMs, we also characterized the expression and localization of Cntn1 in the retinas of mutant mice for developmental defects. Despite widespread expression, no anomalies in retinal anatomy were detected histologically or using a battery of cell-type specific antibodies. We therefore conclude that the phenotype of the Cntn1 mice arises from dysfunction in the brain, spinal cord or peripheral nervous system, and is similar in either a BALB/c or B6;129;Black Swiss background, raising a possible discordance between the mouse and human phenotypes resulting from Cntn1 mutations." @default.
• W2128232016 created "2016-06-24" @default.
• W2128232016 creator A5008078031 @default.
• W2128232016 creator A5032743069 @default.
• W2128232016 creator A5037262679 @default.
• W2128232016 creator A5054412365 @default.
• W2128232016 creator A5067762141 @default.
• W2128232016 creator A5091577528 @default.
• W2128232016 creator A5091780403 @default.
• W2128232016 date "2011-12-29" @default.
• W2128232016 modified "2023-09-25" @default.
• W2128232016 title "A Spontaneous Mutation in Contactin 1 in the Mouse" @default.
• W2128232016 cites W1559041966 @default.
• W2128232016 cites W1568636211 @default.
• W2128232016 cites W1969303353 @default.
• W2128232016 cites W1977565283 @default.
• W2128232016 cites W1979651668 @default.
• W2128232016 cites W1995329516 @default.
• W2128232016 cites W2012674134 @default.
• W2128232016 cites W2015238718 @default.
• W2128232016 cites W2020909792 @default.
• W2128232016 cites W2023375902 @default.
• W2128232016 cites W2036126832 @default.
• W2128232016 cites W2036559452 @default.
• W2128232016 cites W2038985489 @default.
• W2128232016 cites W2040848874 @default.
• W2128232016 cites W2041388242 @default.
• W2128232016 cites W2050258368 @default.
• W2128232016 cites W2064488304 @default.
• W2128232016 cites W2065497335 @default.
• W2128232016 cites W2088716212 @default.
• W2128232016 cites W2093823310 @default.
• W2128232016 cites W2096071863 @default.
• W2128232016 cites W2098584548 @default.
• W2128232016 cites W2099174793 @default.
• W2128232016 cites W2114790713 @default.
• W2128232016 cites W2154720363 @default.
• W2128232016 cites W4298229224 @default.
• W2128232016 cites W47559429 @default.
• W2128232016 doi "https://doi.org/10.1371/journal.pone.0029538" @default.
• W2128232016 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3248457" @default.
• W2128232016 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22242131" @default.
• W2128232016 hasPublicationYear "2011" @default.
• W2128232016 type Work @default.
• W2128232016 sameAs 2128232016 @default.
• W2128232016 citedByCount "14" @default.
• W2128232016 countsByYear W21282320162013 @default.
• W2128232016 countsByYear W21282320162016 @default.
• W2128232016 countsByYear W21282320162017 @default.
• W2128232016 countsByYear W21282320162018 @default.
• W2128232016 countsByYear W21282320162019 @default.
• W2128232016 countsByYear W21282320162021 @default.
• W2128232016 countsByYear W21282320162022 @default.
• W2128232016 countsByYear W21282320162023 @default.
• W2128232016 crossrefType "journal-article" @default.
• W2128232016 hasAuthorship W2128232016A5008078031 @default.
• W2128232016 hasAuthorship W2128232016A5032743069 @default.
• W2128232016 hasAuthorship W2128232016A5037262679 @default.
• W2128232016 hasAuthorship W2128232016A5054412365 @default.
• W2128232016 hasAuthorship W2128232016A5067762141 @default.
• W2128232016 hasAuthorship W2128232016A5091577528 @default.
• W2128232016 hasAuthorship W2128232016A5091780403 @default.
• W2128232016 hasBestOaLocation W21282320161 @default.
• W2128232016 hasConcept C104317684 @default.
• W2128232016 hasConcept C127716648 @default.
• W2128232016 hasConcept C142724271 @default.
• W2128232016 hasConcept C143065580 @default.
• W2128232016 hasConcept C153911025 @default.
• W2128232016 hasConcept C180754005 @default.
• W2128232016 hasConcept C182704531 @default.
• W2128232016 hasConcept C2775934546 @default.
• W2128232016 hasConcept C2777300911 @default.
• W2128232016 hasConcept C2779438767 @default.
• W2128232016 hasConcept C2779999465 @default.
• W2128232016 hasConcept C2796436 @default.
• W2128232016 hasConcept C501734568 @default.
• W2128232016 hasConcept C54355233 @default.
• W2128232016 hasConcept C57708383 @default.
• W2128232016 hasConcept C71924100 @default.
• W2128232016 hasConcept C77957584 @default.
• W2128232016 hasConcept C86803240 @default.
• W2128232016 hasConcept C91682701 @default.
• W2128232016 hasConcept C95444343 @default.
• W2128232016 hasConceptScore W2128232016C104317684 @default.
• W2128232016 hasConceptScore W2128232016C127716648 @default.
• W2128232016 hasConceptScore W2128232016C142724271 @default.
• W2128232016 hasConceptScore W2128232016C143065580 @default.
• W2128232016 hasConceptScore W2128232016C153911025 @default.
• W2128232016 hasConceptScore W2128232016C180754005 @default.
• W2128232016 hasConceptScore W2128232016C182704531 @default.
• W2128232016 hasConceptScore W2128232016C2775934546 @default.
• W2128232016 hasConceptScore W2128232016C2777300911 @default.
• W2128232016 hasConceptScore W2128232016C2779438767 @default.
• W2128232016 hasConceptScore W2128232016C2779999465 @default.
• W2128232016 hasConceptScore W2128232016C2796436 @default.
• W2128232016 hasConceptScore W2128232016C501734568 @default.
• W2128232016 hasConceptScore W2128232016C54355233 @default.
• W2128232016 hasConceptScore W2128232016C57708383 @default.

• next