Format

Send to

Choose Destination
Neurodegener Dis. 2017;17(4-5):181-198. doi: 10.1159/000457126. Epub 2017 May 11.

A Novel Ataxic Mutant Mouse Line Having Sensory Neuropathy Shows Heavy Iron Deposition in Kidney.

Author information

1
Department of Anatomy, The Jikei University School of Medicine, Tokyo, Japan.

Abstract

BACKGROUND/AIMS:

A novel ataxic mouse line was established from the offspring of a male mouse administered cyclophosphamide in a juvenile period.

METHODS:

We have attempted to examine the phenotype and histopathological changes of affected mice. Furthermore, linkage analysis and sequencing of the mutant was performed to reveal the causative gene locus.

RESULTS AND CONCLUSION:

The affected mouse was characterized by heavy hind limb ataxia with gait disorder, which was first recognized at about 4 weeks of age and slowly progressed with advancing age. The phenotype was inherited in an autosomal recessive pattern. The genetic locus associated with the phenotype was named hak and mapped to 107,305,356-108,637,615 on chromosome 2qE3, non-coding sequences in the vicinity of Bdnf gene. Many spheroids were noticed in the cerebellar medulla and the brain stem. In the peripheral nerves, some sensory ganglionic cells showed deposition of NF-200 in the perikaryon and NF-200-positive spheroids in nerve fibers. No inflammatory cell infiltration was observed. In addition, the adult affected mouse had distinct iron deposition in the kidney and the liver, but not in the heart, the skeletal muscle and the central nervous system. These results suggest that the hak mouse has a tissue-specific impairment in the expression of a type of Bdnf transcripts.

KEYWORDS:

Ataxia; Brain-derived neurotrophic factor; Cerebellar nucleus; Dorsal root ganglion; Iron deposition; Mouse model; Neurodegeneration

PMID:
28490024
DOI:
10.1159/000457126
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for S. Karger AG, Basel, Switzerland
Loading ...
Support Center