Ccdc39^prh
Chemically induced Allele Detail

Summary

• Symbol: Ccdc39^prh
• Name: coiled-coil domain containing 39; progressive hydrocephalus
• MGI ID: MGI:5056368
• Synonyms: Ccdc39c.930+2T>A
• Gene: Ccdc39 Location: Chr3:33866511-33898459 bp, - strand Genetic Position: Chr3, 16.32 cM
• Alliance: Ccdc39^prh page

Mutation origin

• Strain of Origin: A/J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: Identified in an ENU screen and mapped to Chromosome 3 0-76 (4 Mb). Genotyping of affected mice (n=51) indicated complete concordance between homozygosity for a chr3:g.33731448A>T variant and the hydrocephalus phenotype. Mutants expressed two atypical transcripts but no wild-type transcript, a result of a failure in splicing intron 7 and cryptic alternative splicing in exon 7. Immunoblotting of wild-type and mutant brain lysates indicated no protein is expressed from this allele in the mutant mice. (J:174027, J:253968)

Disease models

Expression

In Mice Carrying this Mutation:	37 assay results
In Structures Affected by this Mutation:	8 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 Ccdc39 Mutation: 91 strains or lines available

References

• Original: J:174027 Stottmann RW, et al., Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse. Genetics. 2011 Jul;188(3):615-24
• All: 3 reference(s)