About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nsmaftm1Mkr
targeted mutation 1, Martin Kronke
MGI:2386083
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nsmaftm1Mkr/Nsmaftm1Mkr B6.129P2-Nsmaftm1Mkr MGI:3042822
hm2
 		Nsmaftm1Mkr/Nsmaftm1Mkr involves: 129P2/OlaHsd MGI:3042814


Genotype
MGI:3042822
hm1
Allelic
Composition		 Nsmaftm1Mkr/Nsmaftm1Mkr
Genetic
Background		 B6.129P2-Nsmaftm1Mkr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsmaftm1Mkr mutation (0 available); any Nsmaf mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased susceptibility to endotoxin shock ( J:89524 )
• after sensitization with D-galactosamine, mutants displayed partial resistance to LPS or TNF-induced lethality
• mutants produced decreased ceramide and IL-6 levels relative to control mice when challenged with endotoxin




Genotype
MGI:3042814
hm2
Allelic
Composition		 Nsmaftm1Mkr/Nsmaftm1Mkr
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nsmaftm1Mkr mutation (0 available); any Nsmaf mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:54972 )
N
• unlike Chediak-Hiagashi syndrome patients or beige mice, mutant mice displayed no coagulation defects
abnormal T cell physiology ( J:54972 )
• neutral-SMase activation was completely abrogated in TNF-treated thymocytes from homozygous null mice
• in contrast, the activation of acid-SMase in TNF-treated mutant thymocytes remained intact

homeostasis/metabolism
impaired skin barrier function ( J:54972 )
• homozygous null mice were viable and showed no obvious signs of disease until at least 40 weeks of age, but displayed a slight increase in the basal level of trans-epidermal water loss
• following destruction of the permeability barrier by tape stripping, mutants exhibited a significant delay in cutaneous barrier repair
• analysis of epidermal proliferation indicated that the fraction of BrdU positive cells after cutaneous barrier disruption was significantly reduced

immune system
immune system phenotype ( J:54972 )
N
• analysis of cell surface antigens revealed a normal cellular composition and distribution: T- and B-lymphocytes, and natural killer cells were present at a normal frequency relative to wild-type
• mutant mice showed no impairment in the killing activity of NK cells or CTL
• mesenteric lymph nodes and Peyer's patches appeared histologically normal
abnormal T cell physiology ( J:54972 )
• neutral-SMase activation was completely abrogated in TNF-treated thymocytes from homozygous null mice
• in contrast, the activation of acid-SMase in TNF-treated mutant thymocytes remained intact

integument
impaired skin barrier function ( J:54972 )
• homozygous null mice were viable and showed no obvious signs of disease until at least 40 weeks of age, but displayed a slight increase in the basal level of trans-epidermal water loss
• following destruction of the permeability barrier by tape stripping, mutants exhibited a significant delay in cutaneous barrier repair
• analysis of epidermal proliferation indicated that the fraction of BrdU positive cells after cutaneous barrier disruption was significantly reduced




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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory