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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




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory