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B6NTac;B6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics Strain Detail
Summary
  • Strain Name
    B6NTac;B6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics
  • Attributes
    mutant strain, targeted mutation
  • MGI ID
    MGI:5557832
  • Synonyms
    C57BL/6N-Atm1Brd Pnpla1tm1(KOMP)Wtsi/Ics
  • Other IDs
    EM:08012
Associated
Mutations,
Markers,
and QTL
2 associated mutations
Associated
Phenotypes
and
Diseases
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
normal phenotype
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Human Diseases

model 1
autosomal recessive congenital ichthyosis 10 √
Key √ disease model expected model not found
Find Mice (IMSR)
1 associated strain record at IMSR
IMSR Repository IMSR Strain Why Matched
EM:08012 EMMA C57BL/6N-Atm1Brd Pnpla1tm1a(KOMP)Wtsi/Ics exact match to ID
References
  • Earliest
    J:242353 Pichery M, et al., PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. Hum Mol Genet. 2017 May 15;26(10):1787-1800
  • All
    1
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory