Cers1^tm1.1Kwi
Targeted Allele Detail

Summary

• Symbol: Cers1^tm1.1Kwi
• Name: ceramide synthase 1; targeted mutation 1.1, Klaus Willecke
• MGI ID: MGI:5475110
• Gene: Cers1 Location: Chr8:70768425-70784238 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Cers1^tm1.1Kwi page

Foliation defects and cerebellar neurodegeneration in Cers1^tm1.1Kwi/Cers1^tm1.1Kwi mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:193419
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

Allele Type: Targeted (Null/knockout) Mutation: Insertion Mutation details: Exon 1 was replaced with a modified exon 1 lacking the translation initation site. An FRT-flanked neo cassette was inserted upstream of exon 2. An EGFP gene with a splice acceptor and splice donor replaced part of exon 3 with additional translation reinitiation sites. Flp-mediated recombination removed the neo cassette. Western blot analysis confirmed the absence of protein expression in the forebrain, cerebellum, spinal cord and muscle and presence of Gdf1 protein expression in E10 embryos. No GFP expression is detected by western blot analysis. (J:193419)

Generation of the Cers1^tm1.1Kwi allele

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Cers1 Mutation: 21 strains or lines available

References

• Original: J:193419 Ginkel C, et al., Ablation of neuronal ceramide synthase 1 in mice decreases ganglioside levels and expression of myelin-associated glycoprotein in oligodendrocytes. J Biol Chem. 2012 Dec 7;287(50):41888-902
• All: 1 reference(s)