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Cers3tm1.1Rsnd
Targeted Allele Detail
Nomenclature
Symbol: Cers3tm1.1Rsnd
Name: ceramide synthase 3; targeted mutation 1.1, Roger Sandhoff
MGI ID: MGI:5307225
Synonyms: CerS3d
Gene: Cers3  Location: Chr7:66743504-66823691 bp, + strand  Genetic Position: Chr7, 36.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:179754
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAn FRT-flanked neo cassette with a 5' loxP site was inserted upstream of exon 7. An additional loxP site was inserted downstream of exon 7. Cre-mediated recombination remvoed exon 7. RT-PCR confirmed the expression of a truncated transcript. Immunohistochemistry confirmed the absence of protein expression in the stratum spinosum and stratum granulosum. (J:179754)
Phenotypes
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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 Cers3 Mutation:  18 strains or lines available
References
Original:  J:179754 Jennemann R, et al., Loss of ceramide synthase 3 causes lethal skin barrier disruption. Hum Mol Genet. 2012 Feb 1;21(3):586-608
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory