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

Symbol:	Ccdc39prh
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:	Ccdc39prh page

Strain of Origin:

A/J

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)

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

In Mice Carrying this Mutation:	30 assay results
In Structures Affected by this Mutation:	8 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 Ccdc39 Mutation:	91 strains or lines available

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:	2 reference(s)