abnormal Schwann cell physiology_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>

http://metadb.riken.jp/0011904I129SSvEvC57BL6Pmp22tm1UeliPmp22tm1UeliPmp22tm1Ueli

abnormal Schwann cell physiology_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>

表現型アノテーション

MGI marker

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

• peripheral myelin protein 22
  http://metadb.riken.jp/db/mgi_rdf/MGI:97631

遺伝子型

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

• Pmp22<tm1Ueli>/Pmp22<tm1Ueli>

アレルシンボル

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

• Pmp22<tm1Ueli>

遺伝的背景

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

• involves: 129S/SvEv * C57BL/6

MP annotation

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

• abnormal Schwann cell physiology
  http://purl.obolibrary.org/obo/MP_0011904

文献

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

• Guya. Giambonini-Brugnoli, et.al., Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation., Neurobiology of disease, 2005, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/15755691