B6NTac;B6N-A<tm1Brd> Pnpla1<tm1a(KOMP)Wtsi>/Ics Strain Detail MGI Mouse MGI:5557832

B6NTac;B6N-A^tm1Brd Pnpla1^{tm1a(KOMP)Wtsi}/Ics Strain Detail

Summary

2 associated mutations

Mutation Carried	Marker
A^tm1Brd	a
Pnpla1^{tm1a(KOMP)Wtsi}	Pnpla1

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles in this strain.

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

1 associated strain record at IMSR

IMSR	Repository	IMSR Strain	Why Matched
EM:08012	EMMA	C57BL/6N-A^tm1Brd Pnpla1^{tm1a(KOMP)Wtsi}/Ics	exact match to ID

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)
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