Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Nsmaftm1Mkr
Name:	neutral sphingomyelinase (N-SMase) activation associated factor; targeted mutation 1, Martin Kronke
MGI ID:	MGI:2386083
Synonyms:	FAN -, FAN-deficient
Gene:	Nsmaf  Location: Chr4:6396207-6454271 bp, - strand  Genetic Position: Chr4, 2.91 cM, cytoband A1
Alliance:	Nsmaftm1Mkr page

Germline Transmission:	Earliest citation of germline transmission: J:54972
Parent Cell Line:	E14.1 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: The gene was disrupted by replacement of part of exon 2 with a neomycin resistance cassette via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by RT-PCR analysis of tail fibroblast and thymocyte mRNA. (J:54972)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Nsmaf Mutation:	45 strains or lines available

Original:	J:54972 Kreder D, et al., Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice. EMBO J. 1999 May 4;18(9):2472-9
All:	4 reference(s)