Stina A. Schiller, et.al., Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation., The Journal of investigative dermatology, 2016, 136

http://rdf.ncbi.nlm.nih.gov/pubmed/26747696

Stina A. Schiller, et.al., Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation., The Journal of investigative dermatology, 2016, 136

pubmed

allele

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

• Snap29<tm1c(EUCOMM)Wtsi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5812297
• Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5812298

表現型アノテーション

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

• abnormal skin physiology_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0005501IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• decreased birth body size_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009703IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• neonatal lethality, complete penetrance_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0011087IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• scaly skin_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001192IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• acanthosis_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001874IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• tight skin_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001198IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• scaly skin_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001192IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• hyperkeratosis_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001242IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• abnormal epidermal layer morphology_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001216IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal epidermis stratum corneum morphology_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001240IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• increased keratinocyte proliferation_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009583IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• decreased birth body size_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0009703IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• abnormal endoplasmic reticulum physiology_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0020352IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• absent gastric milk in neonates_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009546IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal skin appearance_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009931IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• acanthosis_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0001874IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• increased endoplasmic reticulum stress_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0020354IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• impaired skin barrier function_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0002796IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal epidermis stratum granulosum morphology_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001239IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal keratinocyte differentiation_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0002656IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• decreased hair follicle number_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0000379IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal skin physiology_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0005501IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• abnormal epidermal lamellar body morphology_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009608IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• tight skin_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001198IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal skin appearance_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0009931IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• abnormal autophagy_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0008260IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi
• hyperkeratosis_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0001242IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• decreased keratohyalin granule number_Snap29<tm1c(EUCOMM)Wtsi>/Snap29<tm1c(EUCOMM)Wtsi>,Tg(KRT14-cre)1Cgn/0
  http://metadb.riken.jp/0009605IC57BL6C57BL6NDBA2Snap29tm1cEUCOMMWtsiSnap29tm1cEUCOMMWtsiTgKRT14cre1Cgn0TgKRT14cre1CgnSnap29tm1cEUCOMMWtsi
• abnormal epidermal lamellar body morphology_Snap29<tm1b(EUCOMM)Wtsi>/Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/0009608IC57BL6NFVBNSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsiSnap29tm1bEUCOMMWtsi

class

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

• Snap29<tm1c(EUCOMM)Wtsi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5812297
• Snap29<tm1b(EUCOMM)Wtsi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5812298