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

Symbol:	Cers3tm1.1Rsnd
Name:	ceramide synthase 3; targeted mutation 1.1, Roger Sandhoff
MGI ID:	MGI:5307225
Synonyms:	CerS3d
Gene:	Cers3  Location: Chr7:66393252-66473439 bp, + strand  Genetic Position: Chr7, 36.15 cM
Alliance:	Cers3tm1.1Rsnd page

Germline Transmission:	Earliest citation of germline transmission: J:179754
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: An 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)

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

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	37 strains or lines available

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)