RGD Reference Report - Pathological characteristics of Ccdc85c knockout rats: a rat model of genetic hydrocephalus. - Rat Genome Database

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Pathological characteristics of Ccdc85c knockout rats: a rat model of genetic hydrocephalus.

Authors: Konishi, Shizuka  Tanaka, Natsuki  Mashimo, Tomoji  Yamamoto, Takashi  Sakuma, Tetsushi  Kaneko, Takehito  Tanaka, Miyuu  Izawa, Takeshi  Yamate, Jyoji  Kuwamura, Mitsuru 
Citation: Konishi S, etal., Exp Anim. 2020 Jan 29;69(1):26-33. doi: 10.1538/expanim.19-0005. Epub 2019 Jul 23.
RGD ID: 150520163
Pubmed: PMID:31341137   (View Abstract at PubMed)
PMCID: PMC7004802   (View Article at PubMed Central)
DOI: DOI:10.1538/expanim.19-0005   (Journal Full-text)

Spontaneous hhy mice show hydrocephalus and subcortical heterotopia, and a mutation in the Ccdc85c gene has been identified. To contribute to the comparison of the role of Ccdc85c in different species, we established a Ccdc85c KO rat and investigated its pathological phenotypes. Ccdc85c KO rats were produced by genomic engineering using transcription activator-like effector nuclease (TALEN). The KO rats had an approximately 350-bp deletion in Ccdc85c and lacked CCDC85C protein expression. The KO rats showed non-obstructive hydrocephalus, subcortical heterotopia, and intracranial hemorrhage. The KO rats had many pathological characteristics similar to those in hhy mice. These results indicate that CCDC85C plays an important role in cerebral development in rats, and the function of CCDC85C in the cerebrum are similar in rats and mice.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hydrocephalus  ISOCcdc85c (Rattus norvegicus)150520163; 150520163 RGD 
hydrocephalus  IMP 150520163; 150520163; 150520163 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
intracranial hemorrhage  IMP 150520163; 150520163; 150520163 RGD 
premature death  IMP 150520163; 150520163; 150520163 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ccdc85c  (coiled-coil domain containing 85C)
Ccdc85cem1Kyo  (coiled-coil domain containing 85C; TALEN induced mutant1,Kyo)

Genes (Mus musculus)
Ccdc85c  (coiled-coil domain containing 85C)

Genes (Homo sapiens)
CCDC85C  (coiled-coil domain containing 85C)

F344-Ccdc85cem1Kyo  (NA)

Additional Information