abnormal tibia morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>

http://metadb.riken.jp/0000558C3HeBFeJFam46am1MhdaFam46am1MhdaFam46am1MhdaFam46am1Mhda

abnormal tibia morphology_Fam46a<m1Mhda>/Fam46a<m1Mhda>

表現型アノテーション

MGI marker

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

• family with sequence similarity 46, member A
  http://metadb.riken.jp/db/mgi_rdf/MGI:2670964

遺伝子型

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

• Fam46a<m1Mhda>/Fam46a<m1Mhda>

アレルシンボル

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

• Fam46a<m1Mhda>

遺伝的背景

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

• C3HeB/FeJ-Fam46a<m1Mhda>

MP annotation

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

• abnormal tibia morphology
  http://purl.obolibrary.org/obo/MP_0000558

文献

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

• Susanne. Diener, et.al., Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia., Mammalian genome : official journal of the International Mammalian Genome Society, 2016, 27
  http://rdf.ncbi.nlm.nih.gov/pubmed/26803617