increased diameter of long bones_Hexa<tm1Rlp>/Hexa<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

http://metadb.riken.jp/0008151I129S4SvJaeC57BL6Hexatm1RlpHexatm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpHexatm1Rlp

increased diameter of long bones_Hexa<tm1Rlp>/Hexa<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

表現型アノテーション

MGI marker

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

• hexosaminidase A
  http://metadb.riken.jp/db/mgi_rdf/MGI:96073
• hexosaminidase B
  http://metadb.riken.jp/db/mgi_rdf/MGI:96074

遺伝子型

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

• Hexa<tm1Rlp>/Hexa<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

アレルシンボル

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

• Hexb<tm1Rlp>|Hexa<tm1Rlp>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6

MP annotation

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

• increased diameter of long bones
  http://purl.obolibrary.org/obo/MP_0008151

文献

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

• K. Sango, et.al., Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis., Nature genetics, 1996, 14
  http://rdf.ncbi.nlm.nih.gov/pubmed/8896570