abnormal long bone hypertrophic chondrocyte zone_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>

http://metadb.riken.jp/0000165EB6129Smarcal1tm11CfboorI129C57BL6Smarcal1tm11CfboSmarcal1tm11CfboSmarcal1tm11Cfbo

abnormal long bone hypertrophic chondrocyte zone_Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1859183

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Smarcal1<tm1.1Cfbo>/Smarcal1<tm1.1Cfbo>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Smarcal1<tm1.1Cfbo>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• either: B6.129-Smarcal1<tm1.1Cfbo> or (involves: 129 * C57BL/6)

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal long bone hypertrophic chondrocyte zone
  http://purl.obolibrary.org/obo/MP_0000165

文献

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

• 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