About   Help   FAQ
Nsmaftm1Mkr
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:54972
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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
References
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)

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
11/19/2024
MGI 6.24
The Jackson Laboratory