Cers3^tm1.1Rsnd
Targeted Allele Detail

Summary

• Symbol: Cers3^tm1.1Rsnd
• Name: ceramide synthase 3; targeted mutation 1.1, Roger Sandhoff
• MGI ID: MGI:5307225
• Synonyms: CerS3^d
• Gene: Cers3 Location: Chr7:66393252-66473439 bp, + strand Genetic Position: Chr7, 36.15 cM
• Alliance: Cers3^tm1.1Rsnd page

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 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)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 37 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)