{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360004232393433984.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1016/j.neures.2010.06.004"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0168010210001495?httpAccept=text/xml"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0168010210001495?httpAccept=text/plain"}},{"identifier":{"@type":"PMID","@value":"20558214"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Genetic background and gender effects on gross phenotypes in congenic lines of ALS2/alsin-deficient mice"}],"description":[{"notation":[{"@value":"Loss-of-function mutations in human ALS2 account for several juvenile recessive motor neuron diseases (MNDs). To understand the molecular basis underlying motor dysfunction in ALS2-linked MNDs, several lines of Als2(-/-) mice with a mixed genetic background were thus far generated, and their phenotypes were thoroughly characterized. However, several phenotypic discrepancies among different Als2-deficient lines became evident. To investigate whether genetic backgrounds are associated with such discrepancies, we here generated congenic lines of Als2(-/-) mice on two different genetic backgrounds; C57BL/6 (B6) and FVB/N (FVB), and investigated their gross phenotypes. Both B6 and FVB congenic lines were viable and fertile with no evidences for obvious abnormalities. There were no differences in growth curves between wild-type and Als2(-/-) mice on each genetic background. Remarkably, Als2(-/-) mice on a FVB, but not a B6, background exhibited a shorter life span than wild-type litters. Further, B6 female, but not male, Als2(-/-) mice showed a significantly lower spontaneous rearing activity than wild-type litters. These genetic background- and/or gender-specific findings suggest the presence of modifiers for life span and motor activities in Als2(-/-) mice. These congenic mice should provide a useful means to understand the molecular and genetic basis for variable expression of pathological phenotypes in MNDs."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380004232393433984","@type":"Researcher","foaf:name":[{"@value":"Shinji Hadano"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393433988","@type":"Researcher","foaf:name":[{"@value":"Yasuhiro Yoshii"}]},{"@id":"https://cir.nii.ac.jp/crid/1420282801209662080","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"50535226"},{"@type":"NRID","@value":"1000050535226"},{"@type":"NRID","@value":"9000392202804"},{"@type":"NRID","@value":"9000398628817"},{"@type":"NRID","@value":"9000386100126"},{"@type":"NRID","@value":"9000397690728"},{"@type":"NRID","@value":"9000392202472"},{"@type":"NRID","@value":"9000016617046"},{"@type":"NRID","@value":"9000351227400"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/AsakoOtomo"}],"foaf:name":[{"@value":"Asako Otomo"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393434113","@type":"Researcher","foaf:name":[{"@value":"Ryota Kunita"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393434115","@type":"Researcher","foaf:name":[{"@value":"Kyoko Suzuki-Utsunomiya"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393434114","@type":"Researcher","foaf:name":[{"@value":"Lei Pan"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276167159808","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"80345032"},{"@type":"NRID","@value":"1000080345032"},{"@type":"NRID","@value":"9000404511716"},{"@type":"NRID","@value":"9000258246834"},{"@type":"NRID","@value":"9000404512035"},{"@type":"NRID","@value":"9000243880588"},{"@type":"NRID","@value":"9000404525698"},{"@type":"NRID","@value":"9000238795189"},{"@type":"NRID","@value":"9000016391842"},{"@type":"NRID","@value":"9000414071575"},{"@type":"NRID","@value":"9000410476371"},{"@type":"NRID","@value":"9000414070918"},{"@type":"NRID","@value":"9000412081772"},{"@type":"NRID","@value":"9000411810094"},{"@type":"NRID","@value":"9000019089695"},{"@type":"NRID","@value":"9000361254665"},{"@type":"NRID","@value":"9000414071459"},{"@type":"NRID","@value":"9000410476357"},{"@type":"NRID","@value":"9000290820715"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0057176"}],"foaf:name":[{"@value":"Shigeru Kakuta"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393433989","@type":"Researcher","foaf:name":[{"@value":"Yasuo Iwasaki"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326227877120","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"10089120"},{"@type":"NRID","@value":"1000010089120"},{"@type":"NRID","@value":"9000000182253"},{"@type":"NRID","@value":"9000253014807"},{"@type":"NRID","@value":"9000333083971"},{"@type":"NRID","@value":"9000244881535"},{"@type":"NRID","@value":"9000391772970"},{"@type":"NRID","@value":"9000237919326"},{"@type":"NRID","@value":"9000018988507"},{"@type":"NRID","@value":"9000021809688"},{"@type":"NRID","@value":"9000366506070"},{"@type":"NRID","@value":"9000257906536"},{"@type":"NRID","@value":"9000001468874"},{"@type":"NRID","@value":"9000018532547"},{"@type":"NRID","@value":"9000243880590"},{"@type":"NRID","@value":"9000002184857"},{"@type":"NRID","@value":"9000011158929"},{"@type":"NRID","@value":"9000018476224"},{"@type":"NRID","@value":"9000283723231"},{"@type":"NRID","@value":"9000253021432"},{"@type":"NRID","@value":"9000001303272"},{"@type":"NRID","@value":"9000238795190"},{"@type":"NRID","@value":"9000017343908"},{"@type":"NRID","@value":"9000408492771"},{"@type":"NRID","@value":"9000000675172"},{"@type":"NRID","@value":"9000254056307"},{"@type":"NRID","@value":"9000253195585"},{"@type":"NRID","@value":"9000415311187"},{"@type":"NRID","@value":"9000018394413"},{"@type":"NRID","@value":"9000016391845"},{"@type":"NRID","@value":"9000022037451"},{"@type":"NRID","@value":"9000018386912"},{"@type":"NRID","@value":"9000411796436"},{"@type":"NRID","@value":"9000014167055"},{"@type":"NRID","@value":"9000412081773"},{"@type":"NRID","@value":"9000267770584"},{"@type":"NRID","@value":"9000411810116"},{"@type":"NRID","@value":"9000411964153"},{"@type":"NRID","@value":"9000001431083"},{"@type":"NRID","@value":"9000002042051"},{"@type":"NRID","@value":"9000383202607"},{"@type":"NRID","@value":"9000253106449"},{"@type":"NRID","@value":"9000253107999"},{"@type":"NRID","@value":"9000402241290"},{"@type":"NRID","@value":"9000263041691"},{"@type":"NRID","@value":"9000002127531"},{"@type":"NRID","@value":"9000002184839"},{"@type":"NRID","@value":"9000313618591"},{"@type":"NRID","@value":"9000386095684"},{"@type":"NRID","@value":"9000391656891"},{"@type":"NRID","@value":"9000412086443"},{"@type":"NRID","@value":"9000392757779"},{"@type":"NRID","@value":"9000000028817"},{"@type":"NRID","@value":"9000364838969"},{"@type":"NRID","@value":"9000018564397"},{"@type":"NRID","@value":"9000018282548"},{"@type":"NRID","@value":"9000411790838"},{"@type":"NRID","@value":"9000290820716"},{"@type":"NRID","@value":"9000254451814"},{"@type":"NRID","@value":"9000001254633"},{"@type":"NRID","@value":"9000412582760"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0170509"}],"foaf:name":[{"@value":"Yoichiro Iwakura"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004232393434112","@type":"Researcher","foaf:name":[{"@value":"Joh-E Ikeda"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"01680102"}],"prism:publicationName":[{"@value":"Neuroscience Research"}],"dc:publisher":[{"@value":"Elsevier BV"}],"prism:publicationDate":"2010-10","prism:volume":"68","prism:number":"2","prism:startingPage":"131","prism:endingPage":"136"},"reviewed":"false","dc:rights":["https://www.elsevier.com/tdm/userlicense/1.0/"],"url":[{"@id":"https://api.elsevier.com/content/article/PII:S0168010210001495?httpAccept=text/xml"},{"@id":"https://api.elsevier.com/content/article/PII:S0168010210001495?httpAccept=text/plain"}],"createdAt":"2010-06-15","modifiedAt":"2018-12-10","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Male","dc:title":"Male"},{"@id":"https://cir.nii.ac.jp/all?q=Mice,%20Knockout","dc:title":"Mice, Knockout"},{"@id":"https://cir.nii.ac.jp/all?q=Analysis%20of%20Variance","dc:title":"Analysis of Variance"},{"@id":"https://cir.nii.ac.jp/all?q=Sex%20Characteristics","dc:title":"Sex Characteristics"},{"@id":"https://cir.nii.ac.jp/all?q=Amyotrophic%20Lateral%20Sclerosis","dc:title":"Amyotrophic Lateral Sclerosis"},{"@id":"https://cir.nii.ac.jp/all?q=Body%20Weight","dc:title":"Body Weight"},{"@id":"https://cir.nii.ac.jp/all?q=Longevity","dc:title":"Longevity"},{"@id":"https://cir.nii.ac.jp/all?q=Motor%20Activity","dc:title":"Motor Activity"},{"@id":"https://cir.nii.ac.jp/all?q=Survival%20Analysis","dc:title":"Survival Analysis"},{"@id":"https://cir.nii.ac.jp/all?q=Disease%20Models,%20Animal","dc:title":"Disease Models, Animal"},{"@id":"https://cir.nii.ac.jp/all?q=Mice","dc:title":"Mice"},{"@id":"https://cir.nii.ac.jp/all?q=Mice,%20Congenic","dc:title":"Mice, Congenic"},{"@id":"https://cir.nii.ac.jp/all?q=Phenotype","dc:title":"Phenotype"},{"@id":"https://cir.nii.ac.jp/all?q=Animals","dc:title":"Animals"},{"@id":"https://cir.nii.ac.jp/all?q=Guanine%20Nucleotide%20Exchange%20Factors","dc:title":"Guanine Nucleotide Exchange Factors"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Psychomotor%20Performance","dc:title":"Psychomotor Performance"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000782028587520","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"20220009"},{"@type":"JGN","@value":"JP20220009"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20220009/"}],"notation":[{"@language":"ja","@value":"疾患のシステム的理解を目指したIL-1関連遺伝子欠損マウスライブラリーの作製"},{"@language":"en","@value":"Establishment of an IL-1-related gene-manipulated mice library, aiming at uncovering pathophysiology of disease from a view point of systems biology"}]},{"@id":"https://cir.nii.ac.jp/crid/1040000782131775232","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"22700448"},{"@type":"JGN","@value":"JP22700448"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22700448/"}],"notation":[{"@language":"ja","@value":"モデルマウスを用いたIL-1/IL-17システムによる大腸がん促進機構の解析"},{"@language":"en","@value":"Analysis of IL-1/IL-17 system-dependent promoting mechanisms for development of colon cancer using model mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282257068839936","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"21700397"},{"@type":"JGN","@value":"JP21700397"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21700397/"}],"notation":[{"@language":"ja","@value":"マーモセット運動ニューロンを用いたALS2原因遺伝子産物の分子機能解析"},{"@language":"en","@value":"Analysis of ALS2 function in motor neurons form common marmoset"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004234598701568","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1360004237499184128","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Different Human Copper-Zinc Superoxide Dismutase Mutants, SOD1G93A and SOD1H46R, Exert Distinct Harmful Effects on Gross Phenotype in Mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011146318961408","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A behavioural characterisation of the FVB/N mouse strain"}]},{"@id":"https://cir.nii.ac.jp/crid/1360298757163846912","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Central nervous system specific high molecular weight ALS2/alsin homophilic complex is enriched in mouse brain synaptosomes"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855570552499584","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ALS2CL, the novel protein highly homologous to the carboxy‐terminal half of ALS2, binds to Rab5 and modulates endosome dynamics"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137045218692352","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Loss of<i>ALS2</i>Function Is Insufficient to Trigger Motor Neuron Degeneration in Knock-Out Mice But Predisposes Neurons to Oxidative Stress"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137046376702336","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Background and gender effects on survival in the TgN(SOD1-G93A)1Gur mouse model of ALS"}]},{"@id":"https://cir.nii.ac.jp/crid/1361412342635024768","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418520174401152","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699995063493248","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Molecular and cellular function of ALS2/alsin: Implication of membrane dynamics in neuronal development and degeneration"}]},{"@id":"https://cir.nii.ac.jp/crid/1361981468431550464","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Oxidative stress in ALS: A mechanism of neurodegeneration and a therapeutic target"}]},{"@id":"https://cir.nii.ac.jp/crid/1361981469315404800","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth"}]},{"@id":"https://cir.nii.ac.jp/crid/1362262946318361728","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Network Inference Algorithms Elucidate Nrf2 Regulation of Mouse Lung Oxidative Stress"}]},{"@id":"https://cir.nii.ac.jp/crid/1362544418757791616","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Amyotrophic Lateral Sclerosis 2-Deficiency Leads to Neuronal Degeneration in Amyotrophic Lateral Sclerosis through Altered AMPA Receptor Trafficking"}]},{"@id":"https://cir.nii.ac.jp/crid/1362544419251251584","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Progressive spinal axonal degeneration and slowness in ALS2‐deficient mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825893461787520","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Amyotrophic lateral sclerosis models and human neuropathology: similarities and differences"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825894147413504","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107368253641856","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The origins and uses of mouse outbred stocks"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107368518756224","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Distal axonopathy in an alsin-deficient mouse model"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107370326680832","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107370560804096","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Genetic Mapping of a Mouse Modifier Gene That Can Prevent ALS Onset"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388843565345920","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Genetic determinants of susceptibility to excitotoxic cell death: Implications for gene targeting approaches"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388844757010560","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The Rab5 Activator ALS2/alsin Acts as a Novel Rac1 Effector through Rac1-activated Endocytosis"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388845659179008","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ALS2/Alsin Knockout Mice and Motor Neuron Diseases"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794825384192","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951795221408256","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i>Als2</i>\n            -deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233268995799552","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Susceptibility to excitotoxic and metabolic striatal neurodegeneration in the mouse is genotype dependent"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233269430765952","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1016/j.neures.2010.06.004"},{"@type":"KAKEN","@value":"PRODUCT-11926880"},{"@type":"KAKEN","@value":"PRODUCT-13644790"},{"@type":"KAKEN","@value":"PRODUCT-13022195"},{"@type":"KAKEN","@value":"PRODUCT-13022196"},{"@type":"OPENAIRE","@value":"doi_dedup___::572deea0eb8879c271775d13342ce255"},{"@type":"CROSSREF","@value":"10.1093/hmg/ddw180_references_DOI_DIbJbJumjz7sCnZy4crqjsAK2ON"},{"@type":"CROSSREF","@value":"10.1371/journal.pone.0033409_references_DOI_DIbJbJumjz7sCnZy4crqjsAK2ON"},{"@type":"CROSSREF","@value":"10.1016/j.bbrc.2022.11.061_references_DOI_DIbJbJumjz7sCnZy4crqjsAK2ON"}]}