Alireza. Baradaran-Heravi, et.al., Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22378147

Alireza. Baradaran-Heravi, et.al., Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression., Human molecular genetics, 2012, 21

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Smarcal1<tm1Cfbo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5425306
• Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5425295

class

http://purl.org/net/cito/citesAsAuthority

• Smarcal1<tm1Cfbo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5425306
• Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5425295

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal long bone hypertrophic chondrocyte zone_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0000165EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• decreased B cell number_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0005017EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• abnormal long bone epiphyseal plate morphology_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0003055EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• decreased fibroblast proliferation_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0011704EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• abnormal long bone epiphyseal plate proliferative zone_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0003662EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• increased physiological sensitivity to xenobiotic_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0008873EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• decreased body length_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0001258EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• albuminuria_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0002871EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• decreased body weight_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0001262EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• increased sensitivity to induced morbidity/mortality_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0009763EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• short vertebral column_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0004704EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo
• postnatal growth retardation_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>
  http://metadb.riken.jp/0001732EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo