Genetic mapping of a neurological mutation cerebellar calcification in the rat

Ando, Yumiko; Takeshita, Shigehito; Fujimoto, Kazunori; Shimizu, Motohiro; Nagata, Mayumi; Kikuchi, Tateki; Wakasugi, Noboru

doi:10.1007/s003350010233

Cited by 1 publication

(3 citation statements)

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“…Taken together, it seems likely that the glycoconjugates serve as an absorption matrix for incorporating calcium phosphate in the cerebellum of CC rats. The neurological degeneration of CC rats is inherited as an autosomal recessive trait [1,2]. Therefore, CC rats may provide a key for clarifying the deranged pathway that interferes with the construction of the central nervous system due to genetic defects.…”

Section: Discussionmentioning

confidence: 99%

“…Sixty-three CC × (CC × WKY) F1 backcross progeny were generated as reported previously [2]. Each progeny was genotyped by microsatellite markers at two loci, D15M14Mit222 and D15M14Mit2, located 3.6 cM distal and 2.7 cM proximal to the cc locus, respectively, through a PCR procedure with genomic DNA prepared from the tail.…”

Section: Animalsmentioning

confidence: 99%

“…We therefore named this neurological mutant the cerebellar calcification (CC) rat with the gene symbol cc. In addition, genetic mapping identified the cc locus as the region near the telomere of the short arm in rat chromosome (Chr) 15, the syntenic region of which is suggested to exist in mouse Chr 14 and human Chr 3 or Chr 10 [2].…”

Section: Introductionmentioning

confidence: 99%

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Histological and Ultrastructural Features in the Early Stage of Purkinje Cell Degeneration in the Cerebellar Calcification (CC) Rat.

Ando¹,

Ichihara

Takeshita

et al. 2004

Exp. Anim.

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Abstract:The cerebellar calcification (CC) rat is a new neurodegenerative mutant with severe Purkinje cell loss and symmetrical calcifications in the cerebellar cortex manifesting ataxia: lack of coordination in body movements. In the present study, histopathological features were examined in the Purkinje cell degeneration in postnatal homozygous suckling rats without clinical signs, which were genotyped by microsatellite markers. In addition, the calcified Purkinje cells were investigated ultrastructurally and elemental analysis was performed on the deposits. Body weight of the homozygous (cc/cc) rats was already slightly lower compared with the heterozygotes (cc/+) in the neonatal stage. The degeneration of the Purkinje cells in the cc/cc rats was recognized obviously in lobules VI, VII, VIII and IX from 14 days after birth, a few days before the appearance of the ataxic behavior. The Purkinje cells in the region along the fissure between the VIII and IX lobule areas were intensely positive for periodic acid-Schiff reaction specific to glycoconjugates, and in this region, calcium depositions were weakly positive for von Kossa's stain. Electron microscopy also revealed that the calcified Purkinje cells possessed numerous electrondense bodies containing inclusions with cystic structures such as vesicles, mitochondria and lysosomes, and these bodies were mainly composed of calcium and phosphorous. These findings suggest abnormal storage of glycoconjugates might be a trigger of Purkinje cell degeneration and serves as a matrix for accumulation of calcium phosphate in the cerebellum of CC rats.

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Section: Discussionmentioning

confidence: 99%

Section: Animalsmentioning

confidence: 99%