Ccdc39prh
Chemically induced Allele Detail
|
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
|
|
|
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).
|
|
|
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) |
|