Ccdc85c^hhy
Spontaneous Allele Detail

Summary

• Symbol: Ccdc85c^hhy
• Name: coiled-coil domain containing 85C; hemorrhagic hydrocephalus
• MGI ID: MGI:3505575
• Gene: Ccdc85c Location: Chr12:108169861-108241684 bp, - strand Genetic Position: Chr12, 59.23 cM
• Alliance: Ccdc85c^hhy page

Mutation origin

• Strain of Origin: BALB/cHeA

Mutation description

• Allele Type: Spontaneous
• Mutation: Undefined
• Mutation details: A 1.74kB genomic sequence encompassing exon 2 is deleted in mutant mice (g.52662-55846delinsRTLR; GenBank accession no. AB560874). Transcripts show aberrant splicing from exon 1 to 3, generating a frame shift and premature stop codons (p.Asp266AlafsX74 and p.Asp266GlyfsX73). (J:180189)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	27 assay results
In Structures Affected by this Mutation:	5 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 Ccdc85c Mutation: 15 strains or lines available

References

• Original: J:93608 Kuwamura M, et al., Hemorrhagic hydrocephalus (hhy): a novel mutation on mouse chromosome 12. Brain Res Dev Brain Res. 2004 Aug 18;152(1):69-72
• All: 2 reference(s)