abnormal vertebrae morphology_Hexa<tm1Rlp>/Hexa<tm1Rlp>,Hexb<tm1Rlp>/Hexb<tm1Rlp>

http://metadb.riken.jp/0000137I129S4SvJaeC57BL6Hexatm1RlpHexatm1RlpHexbtm1RlpHexbtm1RlpHexbtm1RlpHexatm1Rlp

abnormal vertebrae morphology_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

• abnormal vertebrae morphology
  http://purl.obolibrary.org/obo/MP_0000137

文献

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

• K. Suzuki, et.al., Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology., Journal of neuropathology and experimental neurology, 1997, 56
  http://rdf.ncbi.nlm.nih.gov/pubmed/9184660