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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
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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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory